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Prices & CPT Codes
Prices & CPT Codes
Prices & CPT Codes 
| Tests & Panels | Gene | MIM | Prices & Codes |
|---|---|---|---|
| Achondrogenesis, type IA (ACG1A) | TRIP11 | 200600 |
DNA Sequencing
- $1,690
(83890x1; 83898x27; 83894x27; 83904x31; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Achondrogenesis, type IB (ACG1B) | DTDST | 600972 |
DNA Sequencing
- $970
(83890x1; 83898x8; 83894x8; 83904x12; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Achondrogenesis, type II (ACG2) / Hypochondrogenesis | COL2A1 | 200610 |
DNA Sequencing
- $1950
(83890x1; 83898x68; 83894x68; 83904x70; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Achondroplasia (ACH) / Hypochondroplasia (HCH) | FGFR3 | 100800 / 146000 |
DNA Sequencing
Test Option 1: Full gene - $1,380 (83890x1; 83898x22; 83894x22; 83904x25; 83912x1) Test Option 2: Exons 3, 5, 7, 9, 10, 13 and 15 only - $725 (83890x1; 83898x9; 83894x9; 83904x11; 83912x1) Test Option 3: Reflex to remaining exons - $843 (83890x1; 83898x13; 83894x13; 83904x15; 83912x1) |
| Acromesomelic dysplasia, Maroteaux type (AMDM) | NPR2 | 602875 |
DNA Sequencing
- $1,390
(83890x1; 83898x24; 83894x24; 83904x26; 83912x1) |
| Acromicric dysplasia (ACMICD) | FBN1 | 102370 |
DNA Sequencing
Test Option 1: Exons 41 and 42 only - $445 (83890x1; 83898x4; 83894x4; 83904x5; 83912x1) |
| Anauxetic dysplasia | RMRP | 607095 |
DNA Sequencing
- $393
(83890x1; 83898x3; 83894x3; 83904x4; 83912x1) |
| Aortic aneurysm, familial thoracic 3 (AAT3) | TGFBR2 | 610380 |
DNA Sequencing
- $930
(83890x1; 83898x10; 83894x10; 83904x12; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Aortic aneurysm, familial thoracic 3 / 4 / 5 / 6 (AAT3 / AAT4 / AAT5 / AAT6) | TGFBR2, MYH11, TGFBR1 & ACTA2 | 610380 / 132900 / 608967 / 611788 |
DNA Sequencing
- $3424
(83890x1; 83898x71; 83894x71; 83904x82; 83912x1) |
| Aortic aneurysm, familial thoracic 4 (AAT4) | MYH11 | 132900 |
DNA Sequencing
- $1775
(83890x1; 83898x41; 83894x41; 83904x50; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Aortic aneurysm, familial thoracic 5 (AAT5) | TGFBR1 | 608967 |
DNA Sequencing
- $990
(83890x1; 83898x12; 83894x12; 83904x14; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Aortic aneurysm, familial thoracic 5 / 3 (AAT5 / AAT3) | TGFBR1 & TGFBR2 | 608967 / 610380 |
DNA Sequencing
- $1530
(83890x1; 83898x22; 83894x22; 83904x26; 83912x1) |
| Aortic aneurysm, familial thoracic 6 (AAT6) | ACTA2 | 611788 |
DNA Sequencing
- $599
(83890x1; 83898x8; 83894x8; 83904x10; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Aortic aneurysm, familial thoracic 7 (AAT7) | MYLK | 613780 |
DNA Sequencing
- $1,730
(83890x1; 83898x36; 83894x36; 83904x43; 83912x1) |
| Arterial calcification, generalized, of infancy (GACI) | ENPP1 | 208000 |
DNA Sequencing
- $1,510
(83890x1; 83898x28; 83894x28; 83904x30; 83912x1) |
| Arterial tortuosity syndrome (ATS) | SLC2A10 | 208050 |
DNA Sequencing
- $615
(83890x1; 83898x7; 83894x7; 83904x9; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Asphyxiating thoracic dystrophy 2 (ATD2) | IFT80 | 611263 |
DNA Sequencing
- $1,810
(83890x1; 83898x23; 83894x23; 83904x30; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Asphyxiating thoracic dystrophy 3 (ATD3) | DYNC2H1 | 613091 |
DNA Sequencing
- $2,780
(83890x1; 83898x98; 83894x98; 83904x102; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Atelosteogenesis, type I / III (AOI / AOIII) | FLNB | 108720 / 108721 |
DNA Sequencing
Test Option 1: Full gene - $2277 (83890x1; 83898x56; 83894x56; 83904x62; 83912x1) Test Option 2: Exons 2, 3, 4, 27, 28 and 29 only - $925 (83890x1; 83898x12; 83894x12; 83904x14; 83912x1) Test Option 3: Reflex to remaining exons - $1552 (83890x1; 83898x44; 83894x44; 83904x48; 83912x1) |
| Atelosteogenesis, type II (AOII) | DTDST | 256050 |
DNA Sequencing
- $970
(83890x1; 83898x8; 83894x8; 83904x12; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Avascular necrosis of femoral head, primary (ANFH) | COL2A1 | 608805 |
DNA Sequencing
- $1950
(83890x1; 83898x68; 83894x68; 83904x70; 83912x1) |
| Bethlem myopathy | COL6A1, COL6A2 & COL6A3 | 158810 |
DNA Sequencing
Test Option 1: Genes COL6A1, COL6A2 and COL6A3 - $2,799 (83890x1; 83898x107; 83894x107; 83904x115; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Boomerang dysplasia (BD) | FLNB | 112310 |
DNA Sequencing
Test Option 1: Full gene - $2277 (83890x1; 83898x56; 83894x56; 83904x62; 83912x1) Test Option 2: Exons 2, 3, 4, 27, 28 and 29 only - $925 (83890x1; 83898x12; 83894x12; 83904x14; 83912x1) Test Option 3: Reflex to remaining exons - $1552 (83890x1; 83898x44; 83894x44; 83904x48; 83912x1) |
| Brachyolmia type 3 | TRPV4 | 113500 |
DNA Sequencing
- $1670
(83890x1; 83898x16; 83894x16; 83904x23; 83912x1) |
| Brittle cornea syndrome 1 (BCS1) | ZNF469 | 229200 |
DNA Sequencing
- $2,030
(83890x1; 83898x33; 83894x33; 83904x38; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xA; 83894xNA; 88386x4; 83912x1) |
| Brittle cornea syndrome 2 (BCS2) | PRDM5 | 614170 |
DNA Sequencing
- $1,325
(83890x1; 83898x21; 83894x21; 83904x25; 83912x1) |
| Bruck syndrome 2 (BRKS2) | PLOD2 | 609220 |
DNA Sequencing
- $2300
(83890x1; 83898x26; 83894x26; 83904x38; 83912x1) |
| Caffey disease | COL1A1 | 114000 |
DNA Sequencing
Test Option 1: Exon 41 only - $393 (83890x1; 83898x3; 83894x3; 83904x4; 83912x1) |
| Campomelic dysplasia (CMPD) | SOX9 | 114290 |
DNA Sequencing
- $780
(83890x1; 83898x6; 83894x6; 83904x9; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Camurati-Engelmann disease (CED) | TGFB1 | 131300 |
DNA Sequencing
- $990
(83890x1; 83898x10; 83894x10; 83904x12; 83912x1) |
| Capillary malformation arteriovenous malformation (CMAVM) | RASA1 | 608354 |
DNA Sequencing
- $1830
(83890x1; 83898x28; 83894x28; 83904x35; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Cardiac valvular dystrophy, X-linked (CVD1) | FLNA | 314400 |
DNA Sequencing
- $2,277
(83890x1; 83898x56; 83894x56; 83904x62; 83912x1) First Gene: (83890x; 83892x; 83894x; 88386x; 83912x) Additional Gene(s): (83890x; 83892x; 83894x; 88386x; 83912x) |
| Cartilage-hair hypoplasia (CHH) | RMRP | 250250 |
DNA Sequencing
- $393
(83890x1; 83898x3; 83894x3; 83904x4; 83912x1) |
| Chondrocalcinosis 2 (CCAL2) | ANKH | 118600 |
DNA Sequencing
- $1,340
(83890x1; 83898x15; 83894x15; 83904x22; 83912x1) |
| Cleidocranial dysplasia (CCD) | RUNX2 | 119600 |
DNA Sequencing
- $940
(83890x1; 83898x8; 83894x8; 83904x16; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Contractural congenital arachnodactyly (CCA) | FBN2 | 121050 |
DNA Sequencing
- $2310
(83890x1; 83898x70; 83894x70; 83904x76; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Cranioectodermal dysplasia 2 (CED2) | WDR35 | 613610 |
DNA Sequencing
- $1,510
(83890x1; 83898x30; 83894x30; 83904x32; 83912x1) |
| Craniometaphyseal dysplasia, autosomal dominant (CMDD) | ANKH | 123000 |
DNA Sequencing
- $1,340
(83890x1; 83898x15; 83894x15; 83904x22; 83912x1) |
| Cutis laxa, autosomal dominant | FBLN5 | 123700 |
DNA Sequencing
- $1,255
(83890x1; 83898x13; 83894x13; 83904x21; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Cutis laxa, autosomal recessive, type I | EFEMP2, FBLN5 | 219100 |
DNA Sequencing
Test Option 1: Gene EFEMP2 only - $1,230 (83890x1; 83898x12; 83894x12; 83904x20; 83912x1) Test Option 2: Gene FBLN5 only - $1,255 (83890x1; 83898x13; 83894x13; 83904x21; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Desbuquois dysplasia (DBQD) | CANT1 | 251450 |
DNA Sequencing
- $880
(83890x1; 83898x7; 83894x7; 83904x12; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Diastrophic dysplasia (DTD) | DTDST | 222600 |
DNA Sequencing
- $970
(83890x1; 83898x8; 83894x8; 83904x12; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Dyggve-Melchior-Clausen disease (DMC) | DYM | 223800 |
DNA Sequencing
- $1,630
(83890x1; 83898x24; 83894x24; 83904x32; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Dyssegmental dysplasia, Silverman-Handmaker type (DDSH) | HSPG2 | 224410 |
DNA Sequencing
- $2690
(83890x1; 83898x100; 83894x100; 83904x112; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Ectopia lentis, isolated, autosomal dominant | FBN1 | 129600 |
DNA Sequencing
- $1,570
(83890x1; 83898x58; 83894x58; 83904x60; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Ectopia lentis, isolated, autosomal recessive | ADAMTSL4 | 225100 |
DNA Sequencing
- $1,470
(83890x1; 83898x23; 83894x23; 83904x27; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Ehlers-Danlos syndrome, musculocontractural type | CHST14 | 601776 |
DNA Sequencing
- $570
(83890x1; 83898x5; 83894x5; 83904x7; 83912x1) |
| Ehlers-Danlos syndrome, spondylocheiro dysplastic form (SCD-EDS) | SLC39A13 | 612350 |
DNA Sequencing
- $1200
(83890x1; 83898x9; 83894x9; 83904x16; 83912x1) |
| Ehlers-Danlos syndrome, type I / II (EDS I / EDS II) | COL5A1, COL5A2 | 130000 / 130010 |
DNA Sequencing
Test Option 1: Genes COL5A1 & COL5A2 - $3170 (83890x1; 83898x130; 83894x130; 83904x170; 83912x1) Test Option 2: Gene COL5A1 only - $2295 (83890x1; 83898x66; 83894x66; 83904x93; 83912x1) Test Option 3: Gene COL5A2 only - $1970 (83890x1; 83898x54; 83894x54; 83904x78; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Ehlers-Danlos syndrome, type IV (EDS IV) | COL3A1 | 130050 |
DNA Sequencing
- $1950
(83890x1; 83898x65; 83894x65; 83904x70; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Ehlers-Danlos syndrome, type VI (EDS VI) | PLOD1 | 225400 |
DNA Sequencing
- $2370
(83890x1; 83898x38; 83894x38; 83904x45; 83912x1) |
| Ehlers-Danlos syndrome, type VIIA / VIIB (EDS VIIA / VIIB) | COL1A1 & COL1A2 | 130060 |
DNA Sequencing
- $570
(83890x1; 83898x4; 83894x4; 83904x6; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Ellis-van Creveld syndrome (EVC) | EVC & EVC2 | 225500 |
DNA Sequencing
- $1,930
(83890x1; 83898x50; 83894x50; 83904x54; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Exostoses, multiple, type I & II (EXT1 / EXT2) | EXT1 & EXT2 | 133700 / 133701 |
DNA Sequencing
Test Option 1: EXT1 only - $760 (83890x1; 83898x12; 83894x12; 83904x14; 83912x1) Test Option 2: EXT2 only - $896 (83890x1; 83898x16; 83894x16; 83904x18; 83912x1) Test Option 3: EXT1 and EXT2 - $1,328 (83890x1; 83898x28; 83894x28; 83904x31; 83912x1) |
| Fibrochondrogenesis | COL11A1 | 228520 |
DNA Sequencing
- $1,870
(83890x1; 83898x60; 83894x60; 83904x67; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Frontometaphyseal dysplasia (FMD) | FLNA | 305620 |
DNA Sequencing
- $2,277
(83890x1; 83898x56; 83894x56; 83904x62; 83912x1) First Gene: (83890x; 83892x; 83894x; 88386x; 83912x) Additional Gene(s): (83890x; 83892x; 83894x; 88386x; 83912x) |
| Geleophysic dysplasia 1 (GPHYSD1) | ADAMTSL2 | 231050 |
DNA Sequencing
- $1,490
(83890x1; 83898x24; 83894x24; 83904x28; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Geleophysic dysplasia 2 (GPHYSD2) | FBN1 | 614185 |
DNA Sequencing
Test Option 1: Exons 41 and 42 only - $445 (83890x1; 83898x4; 83894x4; 83904x5; 83912x1) |
| Glomuvenous malformations (GVM) | GLMN | 138000 |
DNA Sequencing
- $1,780
(83890x1; 83898x21; 83894x21; 83904x26; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Hereditary motor and sensory neuropathy, type IIC, (HMSN2C) | TRPV4 | 606071 |
DNA Sequencing
- $1,670
(83890x1; 83898x16; 83894x16; 83904x23; 83912x1) |
| Homocystinuria | CBS | 236200 |
DNA Sequencing
- $1490
(83890x1; 83898x24; 83894x24; 83904x32; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Hypophosphatasia, adult type | ALPL | 146300 |
DNA Sequencing
- $1450
(83890x1; 83898x21; 83894x21; 83904x24; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Hypophosphatasia, childhood | ALPL | 241510 |
DNA Sequencing
- $1450
(83890x1; 83898x21; 83894x21; 83904x24; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Hypophosphatasia, infantile | ALPL | 241500 |
DNA Sequencing
- $1450
(83890x1; 83898x21; 83894x21; 83904x24; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Kniest dysplasia | COL2A1 | 156550 |
DNA Sequencing
- $1950
(83890x1; 83898x68; 83894x68; 83904x70; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Known Mutation | Any in list | Any in list |
DNA Sequencing
Test Option 1: One mutation - $393 (83890x1; 83898x3; 83894x3; 83904x4; 83912x1) Test Option 2: Two mutations - $445 (83890x1; 83898x4; 83894x4; 83904x5; 83912x1) |
| Larsen syndrome, autosomal dominant (LRS1) | FLNB | 150250 |
DNA Sequencing
Test Option 1: Full Gene - $2277 (83890x1; 83898x56; 83894x56; 83904x62; 83912x1) Test Option 2: Exons 2, 3, 4, 27, 28 and 29 only - $925 (83890x1; 83898x12; 83894x12; 83904x14; 83912x1) Test Option 3: Reflex to remaining exons - $1552 (83890x1; 83898x44; 83894x44; 83904x48; 83912x1) |
| Larsen syndrome, autosomal recessive | CHST3 | 245600 |
DNA Sequencing
- $940
(83890x1; 83898x10; 83894x10; 83904x12; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Loeys-Dietz syndrome (LDS), type 1A / type 1B (LDS1A / LDS1B) | TGFBR1 & TGFBR2 | 609192 / 610168 |
DNA Sequencing
- $1530
(83890x1; 83898x22; 83894x22; 83904x26; 83912x1) |
| Loeys-Dietz syndrome, type 1A (LDS1A) | TGFBR1 | 609192 |
DNA Sequencing
- $990
(83890x1; 83898x12; 83894x12; 83904x14; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Loeys-Dietz syndrome, type 1B (LDS1B) | TGFBR2 | 610168 |
DNA Sequencing
- $930
(83890x1; 83898x10; 83894x10; 83904x12; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Marfan syndrome, type I (MFS1) | FBN1 | 154700 |
DNA Sequencing
- $1,570
(83890x1; 83898x58; 83894x58; 83904x63; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Marfan syndrome, type I / II (MFS1 / MFS2) | FBN1 & TGFBR2 | 154700 / 610168 |
DNA Sequencing
- $2110
(83890x1; 83898x68; 83894x68; 83904x76; 83912x1) |
| Marfan syndrome, type II (MFS2) | TGFBR2 | 610168 |
DNA Sequencing
- $930
(83890x1; 83898x10; 83894x10; 83904x12; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Marshall syndrome | COL11A1 | 154780 |
DNA Sequencing
- $1870
(83890x1; 83898x60; 83894x60; 83904x67; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Melnick-Needles syndrome (MNS) | FLNA | 309350 |
DNA Sequencing
- $2,277
(83890x1; 83898x56; 83894x56; 83904x62; 83912x1) First Gene: (83890x; 83892x; 83894x; 88386x; 83912x) Additional Gene(s): (83890x; 83892x; 83894x; 88386x; 83912x) |
| Metaphyseal chondrodysplasia, Schmid type (MCDS) | COL10A1 | 156500 |
DNA Sequencing
- $445
(83890x1; 83898x4; 83894x4; 83904x5; 83912x1) |
| Metaphyseal dysplasia without hypotrichosis (CHHV) | RMRP | 250460 |
DNA Sequencing
- $393
(83890x1; 83898x3; 83894x3; 83904x4; 83912x1) |
| Metatropic dysplasia | TRPV4 | 156530 |
DNA Sequencing
- $1670
(83890x1; 83898x16; 83894x16; 83904x23; 83912x1) |
| Multiple epiphyseal dysplasia (MED) | COMP | 132400 |
DNA Sequencing
Test Option 1: Full Gene - $1570 (83890x1; 83898x27; 83894x27; 83904x30; 83912x1) Test Option 2: Exons 8 to 19 only - $1330 (83890x1; 83898x21; 83894x21; 83904x24; 83912x1) Test Option 3: Reflex to remaining - $710 (83890x1; 83898x8; 83894x8; 83904x10; 83912x1) |
| Multiple epiphyseal dysplasia (MED) panel | COMP, COL9A1, COL9A2, COL9A3, MATN3 & DTDST | 132400, 614135, 600204, 600969, 607078, 226900 |
DNA Sequencing
- $ 1,800
(83890x1; 83898x39; 83894x39; 83904x46; 83912x1) |
| Nail-patella syndrome (NPS) | LMX1B | 161200 |
DNA Sequencing
- $990
(83890x1; 83898x10; 83894x10; 83904x16; 83912x1) |
| Omodysplasia 1 (OMOD1) | GPC6 | 258315 |
DNA Sequencing
- $1,120
(83890x1; 83898x11; 83894x11; 83904x16; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Osteoarthritis with mild chondrodysplasia | COL2A1 | 604864 |
DNA Sequencing
- $1950
(83890x1; 83898x68; 83894x68; 83904x70; 83912x1) |
| Osteogenesis imperfecta, type IIB and VII | CRTAP | 610854, 610682 |
DNA Sequencing
- $725
(83890x1; 83898x9; 83894x9; 83904x11; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Osteogenesis imperfecta, type IX | PPIB | 259440 |
DNA Sequencing
- $615
(83890x1; 83898x7; 83894x7; 83904x9; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Osteogenesis imperfecta, type VI | FKBP10 | 610968 |
DNA Sequencing
- $790
(83890x1; 83898x12; 83894x12; 83904x14; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Osteogenesis imperfecta, type VII | CRTAP | 610682 |
DNA Sequencing
- $725
(83890x1; 83898x9; 83894x9; 83904x11; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Osteogenesis imperfecta, type VIII | LEPRE1 | 610915 |
DNA Sequencing
- $970
(83890x1; 83898x17; 83894x17; 83904x19; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Osteogenesis imperfecta, type X | SERPINH1 | 613848 |
DNA Sequencing
- $495
(83890x1; 83898x5; 83894x5; 83904x7; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Osteogenesis imperfecta, type XI | SP7 | 613849 |
DNA Sequencing
- $445
(83890x1; 83898x4; 83894x4; 83904x5; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Osteogenesis imperfecta, type XII | SERPINF1 | 613982 |
DNA Sequencing
- $725
(83890x1; 83898x9; 83894x9; 83904x11; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Osteogenesis imperfecta, types I, IIA, III & IV | COL1A1 & COL1A2 | 166200, 166210, 259420 & 166220 |
DNA Sequencing
Test Option 1: Genes COL1A1 and COL1A2 - $1,750 (83890x1; 83898x65; 83894x65; 83904x70; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Osteogenesis imperfecta, types IIB, VI, VII, VIII, IX, X, XI & XII | CRTAP, FKBP10, LEPRE1, PPIB, SERPINH1, SP7 & SERPINF1 | 610854, 610682, 610968, 610915, 259440, 613848, 613849 & 613982 |
DNA Sequencing
- $2,100
(83890x1; 83898x60; 83894x60; 83904x62; 83912x1) |
| Osteopetrosis with renal tubular acidosis 3 (OPTB3) | CA2 | 259730 |
DNA Sequencing
- $990
(83890x1; 83898x8; 83894x8; 83904x12; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Osteopetrosis, autosomal dominant 2 (OPTA2) | CLCN7 | 166600 |
DNA Sequencing
- $1810
(83890x1; 83898x26; 83894x26; 83904x29; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Osteopetrosis, autosomal recessive 1 (OPTB1) | TCIRG1 | 259700 |
DNA Sequencing
- $1530
(83890x1; 83898x21; 83894x21; 83904x24; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Osteopetrosis, autosomal recessive 1, 4, 5 (OPTB1 / 4 / 5) | TCIRG1, CLCN7, OSTM1 | 259700, 611490, 259720 |
DNA Sequencing
- $3310
(83890x1; 83898x72; 83894x72; 83904x80; 83912x1) |
| Osteopetrosis, autosomal recessive 2 (OPTB2) | TNFSF11 | 259710 |
DNA Sequencing
- $970
(83890x1; 83898x5; 83894x5; 83904x10; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Osteopetrosis, autosomal recessive 4 (OPTB4) | CLCN7 | 611490 |
DNA Sequencing
- $1810
(83890x1; 83898x26; 83894x26; 83904x29; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Osteopetrosis, autosomal recessive 5 (OPTB5) | OSTM1 | 259720 |
DNA Sequencing
- $990
(83890x1; 83898x12; 83894x12; 83904x14; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Osteopetrosis, autosomal recessive 6 (OPTB6) | PLEKHM1 | 611497 |
DNA Sequencing
- $1430
(83890x1; 83898x12; 83894x12; 83904x21; 83912x1) |
| Osteopetrosis, autosomal recessive 7 (OPTB7) | TNFRSF11A | 612301 |
DNA Sequencing
- $1390
(83890x1; 83898x12; 83894x12; 83904x20; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Otopalatodigital syndrome, type I (OPD1) | FLNA | 311300 |
DNA Sequencing
- $2,277
(83890x1; 83898x56; 83894x56; 83904x62; 83912x1) First Gene: (83890x; 83892x; 83894x; 88386x; 83912x) Additional Gene(s): (83890x; 83892x; 83894x; 88386x; 83912x) |
| Otopalatodigital syndrome, type II (OPD2) | FLNA | 304120 |
DNA Sequencing
- $2,277
(83890x1; 83898x56; 83894x56; 83904x62; 83912x1) First Gene: (83890x; 83892x; 83894x; 88386x; 83912x) Additional Gene(s): (83890x; 83892x; 83894x; 88386x; 83912x) |
| Otospondylomegaepiphyseal dysplasia (OSMED) | COL11A2 | 215150 |
DNA Sequencing
- $2350
(83890x1; 83898x70; 83894x70; 83904x76; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Parkes Weber syndrome (PKWS) | RASA1 | 608355 |
DNA Sequencing
- $1830
(83890x1; 83898x28; 83894x28; 83904x35; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Periventricular heterotopia, Ehlers-Danlos variant (PVNH4) | FLNA | 300537 |
DNA Sequencing
- $2,277
(83890x1; 83898x56; 83894x56; 83904x62; 83912x1) First Gene: (83890x; 83892x; 83894x; 88386x; 83912x) Additional Gene(s): (83890x; 83892x; 83894x; 88386x; 83912x) |
| Periventricular heterotopia, X-linked dominant (PVNH1) | FLNA | 300049 |
DNA Sequencing
- $2,277
(83890x1; 83898x56; 83894x56; 83904x62; 83912x1) First Gene: (83890x; 83892x; 83894x; 88386x; 83912x) Additional Gene(s): (83890x; 83892x; 83894x; 88386x; 83912x) |
| Platyspondylic lethal skeletal dysplasia, Torrance type (PLSDT) | COL2A1 | 151210 |
DNA Sequencing
Test Option 1: Full Gene - $1950 (83890x1; 83898x68; 83894x68; 83904x70; 83912x1) Test Option 2: Exons 51, 52, 53 and 54 only - $690 (83890x1; 83898x8; 83894x8; 83904x12; 83912x1) Test Option 3: Reflex to remaining exons - $1460 (83890x1; 83898x60; 83894x60; 83904x58; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Progressive pseudorheumatoid arthropathy of childhood (PPAC) | WISP3 | 208230 |
DNA Sequencing
- $830
(83890x1; 83898x8; 83894x8; 83904x10; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Pseudoachondroplasia (PSACH) | COMP | 177170 |
DNA Sequencing
Test Option 1: Full Gene - $1570 (83890x1; 83898x27; 83894x27; 83904x30; 83912x1) Test Option 2: Exons 8 to 19 only - $1330 (83890x1; 83898x21; 83894x21; 83904x24; 83912x1) Test Option 3: Reflex to remaining exons - $710 (83890x1; 83898x8; 83894x8; 83904x10; 83912x1) |
| Rickets, hypophosphatemic, autosomal dominant (ADHR) | FGF23 | 193100 |
DNA Sequencing
- $492
(83890x1; 83898x7; 83894x7; 83904x9; 83912x1) |
| Rickets, hypophosphatemic, autosomal recessive, 1 (ARHR1) | DMP1 | 241520 |
DNA Sequencing
- $920
(83890x1; 83898x9; 83894x9; 83904x13; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Rickets, hypophosphatemic, autosomal recessive, 2 (ARHR2) | ENPP1 | 613312 |
DNA Sequencing
- $1,510
(83890x1; 83898x28; 83894x28; 83904x30; 83912x1) |
| Rickets, hypophosphatemic, X-linked dominant (XLH) | PHEX | 307800 |
DNA Sequencing
- $1440
(83890x1; 83898x25; 83894x25; 83904x27; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Rickets, vitamin D-dependent, type I (VDDR I) | CYP27B1 | 264700 |
DNA Sequencing
- $990
(83890x1; 83898x12; 83894x12; 83904x14; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Scapuloperoneal spinal muscular atrophy (SPSMA) | TRPV4 | 181405 |
DNA Sequencing
- $1,670
(83890x1; 83898x16; 83894x16; 83904x23; 83912x1) |
| Schwartz-Jampel syndrome, type 1 (SJS1) | HSPG2 | 255800 |
DNA Sequencing
- $2690
(83890x1; 83898x100; 83894x100; 83904x112; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) | FGFR3 | - |
DNA Sequencing
Test Option 1: Exon 15 only - $393 (83890x1; 83898x3; 83894x3; 83904x4; 83912x1) |
| Short rib-polydactyly syndrome, type III (SRPS3) | DYNC2H1 | 263510 |
DNA Sequencing
- $2,780
(83890x1; 83898x98; 83894x98; 83904x102; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Short rib-polydactyly syndrome, type V (SRPS5) | WDR35 | 614091 |
DNA Sequencing
- $1,510
(83890x1; 83898x30; 83894x30; 83904x32; 83912x1) |
| Smith-McCort dysplasia (SMC) | DYM | 607326 |
DNA Sequencing
- $1,630
(83890x1; 83898x24; 83894x24; 83904x32; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Spinal muscular atrophy, distal, congenital nonprogressive | TRPV4 | 600175 |
DNA Sequencing
- $1,670
(83890x1; 83898x16; 83894x16; 83904x23; 83912x1) |
| Spondylocarpotarsal synostosis syndrome (SCT) | FLNB | 272460 |
DNA Sequencing
- $2277
(83890x1; 83898x56; 83894x56; 83904x62; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Spondyloepimetaphyseal dysplasia, Strudwick type (SEMD) | COL2A1 | 184250 |
DNA Sequencing
- $1950
(83890x1; 83898x68; 83894x68; 83904x70; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Spondyloepiphyseal dysplasia congenita (SEDc) | COL2A1 | 183900 |
DNA Sequencing
- $1950
(83890x1; 83898x68; 83894x68; 83904x70; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Spondyloepiphyseal dysplasia tarda, X-linked (SEDT) | SEDL | 313400 |
DNA Sequencing
- $841
(83890x1; 83898x8; 83894x8; 83904x12; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Spondyloepiphyseal dysplasia with congenital joint dislocations | CHST3 | 143095 |
DNA Sequencing
- $940
(83890x1; 83898x10; 83894x10; 83904x12; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Spondyloepiphyseal dysplasia, Maroteaux type | TRPV4 | 184095 |
DNA Sequencing
- $1,670
(83890x1; 83898x16; 83894x16; 83904x23; 83912x1) |
| Spondylometaphyseal dysplasia, Kozlowski type (SMDK) | TRPV4 | 184252 |
DNA Sequencing
- $1670
(83890x1; 83898x16; 83894x16; 83904x23; 83912x1) |
| Spondyloperipheral dysplasia | COL2A1 | 271700 |
DNA Sequencing
Test Option 1: Full Gene - $1950 (83890x1; 83898x68; 83894x68; 83904x70; 83912x1) Test Option 2: Exons 51, 52, 53 and 54 only. - $690 (83890x1; 83898x8; 83894x8; 83904x12; 83912x1) Test Option 3: Reflex to remaining exons - $1460 (83890x1; 83898x60; 83894x60; 83904x58; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Stickler syndrome, autosomal recessive | COL9A1, COL9A2 & COL9A3 | 614134, 614284 |
DNA Sequencing
- $2,670
(83890x1; 83898x95; 83894x95; 83904x100; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Stickler syndrome, type I (STL1) | COL2A1 | 108300 |
DNA Sequencing
- $1950
(83890x1; 83898x68; 83894x68; 83904x70; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Stickler syndrome, type I / II (STL1 / STL2) | COL2A1 & COL11A1 | 108300 / 604841 |
DNA Sequencing
- $2780
(83890x1; 83898x131; 83894x131; 83904x138; 83912x1) |
| Stickler syndrome, type II (STL2) | COL11A1 | 604841 |
DNA Sequencing
- $1870
(83890x1; 83898x60; 83894x60; 83904x67; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Stickler syndrome, type III (STL3) | COL11A2 | 184840 |
DNA Sequencing
- $2350
(83890x1; 83898x70; 83894x70; 83904x76; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Stuve-Wiedemann syndrome (STWS) | LIFR | 601559 |
DNA Sequencing
- $1,670
(83890x1; 83898x24; 83894x24; 83904x27; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Thanatophoric dysplasia, type I / II (TD1 / TD2) | FGFR3 | 187600 / 187601 |
DNA Sequencing
Test Option 1: Full gene - $1,380 (83890x1; 83898x22; 83894x22; 83904x25; 83912x1) Test Option 2: Exons 7, 10, 15 and 19 only - $570 (83890x1; 83898x5; 83894x5; 83904x7; 83912x1) Test Option 3: Reflex to remaining exons - $998 (83890x1; 83898x17; 83894x17; 83904x19; 83912x1) |
| Three M syndrome 1 (3M1) | CUL7 | 273750 |
DNA Sequencing
- $1,830
(83890x1; 83898x25; 83894x25; 83904x30; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Three M syndrome 2 (3M2) | OBSL1 | 612921 |
DNA Sequencing
- $1,680
(83890x1; 83898x22; 83894x22; 83904x27; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Three M syndrome 3 (3M3) | CCDC8 | 614205 |
DNA Sequencing
- $595
(83890x1; 83898x4; 83894x4; 83904x8; 83912x1) |
| Tooth agenesis, selective, 1 (STHAG1) | MSX1 | 106600 |
DNA Sequencing
- $870
(83890x1; 83898x4; 83894x4; 83904x10; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Torg-Winchester syndrome | MMP2 | 259600 |
DNA Sequencing
- $1,610
(83890x1; 83898x16; 83894x16; 83904x30; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Treacher Collins syndrome 1 (TCS1) | TCOF1 | 154500 |
DNA Sequencing
- $1830
(83890x1; 83898x28; 83894x28; 83904x35; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Treacher Collins syndrome 2 (TCS2) | POLR1D | 613717 |
DNA Sequencing
- $710
(83890x1; 83898x8; 83894x8; 83904x10; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Treacher Collins syndrome 3 (TCS3) | POLR1C | 248390 |
DNA Sequencing
- $910
(83890x1; 83898x12; 83894x12; 83904x14; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Trichorhinophalangeal syndrome, type I (TRPS I) | TRPS1 | 190350 |
DNA Sequencing
- $1090
(83890x1; 83898x12; 83894x12; 83904x16; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Trichorhinophalangeal syndrome, type III (TRPS III) | TRPS1 | 190351 |
DNA Sequencing
- $1,090
(83890x1; 83898x12; 83894x12; 83904x16; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Ullrich congenital muscular dystrophy | COL6A1, COL6A2 & COL6A3 | 254090 |
DNA Sequencing
- $2799
(83890x1; 83898x107; 83894x107; 83904x115; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Wagner syndrome (WGN1) | CSPG2 | 143200 |
DNA Sequencing
- $1790
(83890x1; 83898x30; 83894x30; 83904x36; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Weill-Marchesani syndrome (WMS), autosomal dominant | FBN1 | 608328 |
DNA Sequencing
- $1570
(83890x1; 83898x58; 83894x58; 83904x63; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Weill-Marchesani syndrome (WMS), autosomal recessive | ADAMTS10 | 277600 |
DNA Sequencing
- $1810
(83890x1; 83898x28; 83894x28; 83904x32; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Weissenbacher-Zweymuller syndrome (WZS) | COL11A2 | 277610 |
DNA Sequencing
- $2350
(83890x1; 83898x70; 83894x70; 83904x76; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Weyers acrofacial dysostosis | EVC & EVC2 | 193530 |
DNA Sequencing
- $1,930
(83890x1; 83898x50; 83894x50; 83904x54; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Witkop syndrome | MSX1 | 189500 |
DNA Sequencing
- $870
(83890x1; 83898x4; 83894x4; 83904x10; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |
| Wolcott-Rallison syndrome | EIF2AK3 | 226980 |
DNA Sequencing
- $1740
(83890x1; 83898x19; 83894x19; 83904x26; 83912x1) Deletion / Duplication Analysis - High-Density Targeted Array First Gene: - $1,190 (83890x1; 83892x2; 83894x1; 88386x4; 83912x1) Additional Gene(s): - $590 (83890xNA; 83892xNA; 83894xNA; 88386x4; 83912x1) |