Sanger Sequencing & Del / Dup

Tests are available using the following methodologies

DNA Sequencing DNA Sequencing   Deletion / Duplication: HDT ArrayDeletion / Duplication: HDT Array

Tests & Panels Gene MIM Methods    
Achondrogenesis, type IA (ACG1A) TRIP11 200600 DNA SequencingDeletion / Duplication: HDT Array
Achondrogenesis, type IB (ACG1B) DTDST 600972 DNA SequencingDeletion / Duplication: HDT Array
Achondrogenesis, type II (ACG2) / Hypochondrogenesis COL2A1 200610 DNA SequencingDeletion / Duplication: HDT Array
Achondroplasia (ACH) / Hypochondroplasia (HCH) FGFR3 100800 & 146000 DNA Sequencing
Acromesomelic dysplasia, Maroteaux type (AMDM) NPR2 602875 DNA SequencingDeletion / Duplication: HDT Array
Acromicric dysplasia (ACMICD) FBN1 102370 DNA Sequencing
Adams-Oliver Syndrome 1 (AOS1) ARHGAP31 100300 DNA SequencingDeletion / Duplication: HDT Array
Alagille syndrome 1 (ALGS1) JAG1 118450 DNA SequencingDeletion / Duplication: HDT Array
Alport syndrome, X-linked (ATS) COL4A5 301050 DNA SequencingDeletion / Duplication: HDT Array
Anauxetic dysplasia RMRP 607095 DNA Sequencing
Aortic aneurysm, familial thoracic 3 (AAT3) TGFBR2 610380 DNA SequencingDeletion / Duplication: HDT Array
Aortic aneurysm, familial thoracic 3 / 4 / 5 / 6 (AAT3 / AAT4 / AAT5 / AAT6) TGFBR2, MYH11, TGFBR1 & ACTA2 610380, 132900, 608967 & 611788 DNA Sequencing
Aortic aneurysm, familial thoracic 4 (AAT4) MYH11 132900 DNA SequencingDeletion / Duplication: HDT Array
Aortic aneurysm, familial thoracic 5 (AAT5) TGFBR1 608967 DNA SequencingDeletion / Duplication: HDT Array
Aortic aneurysm, familial thoracic 5 / 3 (AAT5 / AAT3) TGFBR1 & TGFBR2 608967 & 610380 DNA Sequencing
Aortic aneurysm, familial thoracic 5 / 3 (AAT5 / AAT3), SMAD3 & TGFB2 related TGFBR1, TGFBR2, SMAD3 & TGFB2 610380, 608967 DNA Sequencing
Aortic aneurysm, familial thoracic 6 (AAT6) ACTA2 611788 DNA SequencingDeletion / Duplication: HDT Array
Aortic aneurysm, familial thoracic 7 (AAT7) MYLK 613780 DNA Sequencing
Aortic aneurysm, familial thoracic, SMAD3 related SMAD3 - DNA SequencingDeletion / Duplication: HDT Array
Aortic aneurysm, familial thoracic, TGFB2 related TGFB2 - DNA SequencingDeletion / Duplication: HDT Array
Apert syndrome FGFR2 101200 DNA SequencingDeletion / Duplication: HDT Array
Arterial calcification, generalized, of infancy, 1 (GACI1) ENPP1 208000 DNA SequencingDeletion / Duplication: HDT Array
Arterial tortuosity syndrome (ATS) SLC2A10 208050 DNA SequencingDeletion / Duplication: HDT Array
Asphyxiating thoracic dystrophy 2 (ATD2) IFT80 611263 DNA SequencingDeletion / Duplication: HDT Array
Asphyxiating thoracic dystrophy 3 (ATD3) DYNC2H1 613091 DNA SequencingDeletion / Duplication: HDT Array
Asphyxiating thoracic dystrophy 4 (ATD4) TTC21B 613819 DNA SequencingDeletion / Duplication: HDT Array
Asphyxiating thoracic dystrophy 5 (ATD5) WDR19 614376 DNA SequencingDeletion / Duplication: HDT Array
Atelosteogenesis, type I / III (AOI / AOIII) FLNB 108720 & 108721 DNA Sequencing
Atelosteogenesis, type II (AOII) DTDST 256050 DNA SequencingDeletion / Duplication: HDT Array
Avascular necrosis of femoral head, primary (ANFH) COL2A1 608805 DNA Sequencing
Beare-Stevenson cutis gyrata syndrome FGFR2 123790 DNA Sequencing
Bent bone dysplasia syndrome (BBDS) FGFR2 614592 DNA Sequencing
Bethlem myopathy COL6A1, COL6A2 & COL6A3 158810 DNA SequencingDeletion / Duplication: HDT Array
Boomerang dysplasia (BD) FLNB 112310 DNA Sequencing
Brachyolmia type 3 TRPV4 113500 DNA Sequencing
Brittle cornea syndrome 1 (BCS1) ZNF469 229200 DNA SequencingDeletion / Duplication: HDT Array
Brittle cornea syndrome 2 (BCS2) PRDM5 614170 DNA SequencingDeletion / Duplication: HDT Array
Bruck syndrome 2 (BRKS2) PLOD2 609220 DNA Sequencing
Buschke-Ollendorff syndrome (BOS) LEMD3 166700 DNA SequencingDeletion / Duplication: HDT Array
Caffey disease COL1A1 114000 DNA Sequencing
Campomelic dysplasia (CMPD) SOX9 114290 DNA SequencingDeletion / Duplication: HDT Array
Camurati-Engelmann disease (CED) TGFB1 131300 DNA Sequencing
Capillary malformation arteriovenous malformation (CMAVM) RASA1 608354 DNA SequencingDeletion / Duplication: HDT Array
Cardiac valvular dystrophy, X-linked (CVD1) FLNA 314400 DNA Sequencing
Cartilage-hair hypoplasia (CHH) RMRP 250250 DNA Sequencing
Chondrocalcinosis 2 (CCAL2) ANKH 118600 DNA Sequencing
Cleidocranial dysplasia (CCD) RUNX2 119600 DNA Sequencing
Congenital contractural arachnodactyly (CCA) FBN2 121050 DNA SequencingDeletion / Duplication: HDT Array
Cranioectodermal dysplasia 2 (CED2) WDR35 613610 DNA SequencingDeletion / Duplication: HDT Array
Cranioectodermal dysplasia 4 (CED4) WDR19 614378 DNA SequencingDeletion / Duplication: HDT Array
Craniometaphyseal dysplasia, autosomal dominant (CMDD) ANKH 123000 DNA Sequencing
Craniosynostosis, type 1 (CRS1) TWIST1 123100 DNA SequencingDeletion / Duplication: HDT Array
Crouzon syndrome FGFR2 123500 DNA Sequencing
Crouzon syndrome with acanthosis nigricans (CAN) FGFR3 612247 DNA Sequencing
Cutis laxa, autosomal dominant FBLN5 123700 DNA SequencingDeletion / Duplication: HDT Array
Cutis laxa, autosomal recessive, type I (EFEMP2) EFEMP2 219100 DNA SequencingDeletion / Duplication: HDT Array
Cutis laxa, autosomal recessive, type I (FBLN5) FBLN5 219100 DNA SequencingDeletion / Duplication: HDT Array
Desbuquois dysplasia (DBQD) CANT1 251450 DNA SequencingDeletion / Duplication: HDT Array
Diaphanospondylodysostosis BMPER 608022 DNA Sequencing
Diastrophic dysplasia (DTD) DTDST 222600 DNA SequencingDeletion / Duplication: HDT Array
Digital arthropathy-brachydactyly, familial (FDAB) TRPV4 606835 DNA Sequencing
Dyggve-Melchior-Clausen disease (DMC) DYM 223800 DNA SequencingDeletion / Duplication: HDT Array
Dyssegmental dysplasia, Silverman-Handmaker type (DDSH) HSPG2 224410 DNA SequencingDeletion / Duplication: HDT Array
Ectopia lentis, isolated, autosomal dominant FBN1 129600 DNA SequencingDeletion / Duplication: HDT Array
Ectopia lentis, isolated, autosomal recessive ADAMTSL4 225100 DNA SequencingDeletion / Duplication: HDT Array
Ehlers-Danlos syndrome, musculocontractural type CHST14 601776 DNA SequencingDeletion / Duplication: HDT Array
Ehlers-Danlos syndrome, spondylocheiro dysplastic form (SCD-EDS) SLC39A13 612350 DNA Sequencing
Ehlers-Danlos syndrome, type I / II (EDS I / EDS II) COL5A1, COL5A2 130000 & 130010 DNA SequencingDeletion / Duplication: HDT Array
Ehlers-Danlos syndrome, type IV (EDS IV) COL3A1 130050 DNA SequencingDeletion / Duplication: HDT Array
Ehlers-Danlos syndrome, type VI (EDS VI) PLOD1 225400 DNA Sequencing
Ehlers-Danlos syndrome, type VIIA / VIIB (EDS VIIA / VIIB) COL1A1 & COL1A2 130060 DNA SequencingDeletion / Duplication: HDT Array
Ellis-van Creveld syndrome (EVC) EVC & EVC2 225500 DNA SequencingDeletion / Duplication: HDT Array
Exostoses, multiple, type I & II (EXT1 / EXT2) EXT1 & EXT2 133700 & 133701 DNA Sequencing
Exostoses, multiple, type I (EXT1) EXT1 133700 DNA SequencingDeletion / Duplication: HDT Array
Exostoses, multiple, type II (EXT2) EXT2 133701 DNA SequencingDeletion / Duplication: HDT Array
Exudative vitreoretinopathy 4 (EVR4) LRP5 601813 DNA SequencingDeletion / Duplication: HDT Array
FGFR1, FGFR2 and FGFR3 related craniosynostosis panel FGFR1, FGFR2 & FGFR3 - DNA Sequencing
FGFR1, FGFR2, FGFR3 & TWIST1 related craniosynostosis panel FGFR1, FGFR2, FGFR3 & TWIST1 - DNA Sequencing
FGFR2 related craniosynostosis FGFR2 - DNA SequencingDeletion / Duplication: HDT Array
Fibrochondrogenesis 1 (FBCG1) COL11A1 228520 DNA SequencingDeletion / Duplication: HDT Array
Fibrochondrogenesis 2 (FBCG2) COL11A2 614524 DNA SequencingDeletion / Duplication: HDT Array
Focal dermal hypoplasia (FDH) PORCN 305600 DNA SequencingDeletion / Duplication: HDT Array
Frontometaphyseal dysplasia (FMD) FLNA 305620 DNA Sequencing
Geleophysic dysplasia 1 (GPHYSD1) ADAMTSL2 231050 DNA SequencingDeletion / Duplication: HDT Array
Geleophysic dysplasia 2 (GPHYSD2) FBN1 614185 DNA Sequencing
Glomuvenous malformations (GVM) GLMN 138000 DNA SequencingDeletion / Duplication: HDT Array
Greig cephalopolysyndactyly syndrome (GCPS) GLI3 175700 DNA SequencingDeletion / Duplication: HDT Array
Hereditary motor and sensory neuropathy, type IIC, (HMSN2C) TRPV4 606071 DNA Sequencing
Homocystinuria CBS 236200 DNA SequencingDeletion / Duplication: HDT Array
Hyperostosis corticalis generalisata, benign form of worth, with torus palatinus LRP5 144750 DNA SequencingDeletion / Duplication: HDT Array
Hypophosphatasia, infantile, childhood & adult types ALPL 241500 DNA SequencingDeletion / Duplication: HDT Array
Jackson-Weiss syndrome (JWS) FGFR2 123150 DNA Sequencing
Kniest dysplasia COL2A1 156550 DNA SequencingDeletion / Duplication: HDT Array
Known Mutation Any in list Any in list DNA Sequencing
Larsen syndrome, autosomal dominant (LRS1) FLNB 150250 DNA Sequencing
Larsen syndrome, autosomal recessive CHST3 245600 DNA SequencingDeletion / Duplication: HDT Array
Loeys-Dietz syndrome (LDS), type 1A / type 1B (LDS1A / LDS1B) TGFBR1 & TGFBR2 609192 & 610168 DNA Sequencing
Loeys-Dietz syndrome, type 1A (LDS1A) TGFBR1 609192 DNA SequencingDeletion / Duplication: HDT Array
Loeys-Dietz syndrome, type 1A, 1B, 3 & 4 (LDS1A / LDS1B / LDS3 / LDS4) TGFBR1, TGFBR2, SMAD3 & TGFB2 609192, 610168, 613795, 614816 DNA Sequencing
Loeys-Dietz syndrome, type 1B (LDS1B) TGFBR2 610168 DNA SequencingDeletion / Duplication: HDT Array
Loeys-Dietz syndrome, type 3 (LDS3) SMAD3 613795 DNA SequencingDeletion / Duplication: HDT Array
Loeys-Dietz syndrome, type 4 (LDS4) TGFB2 614816 DNA SequencingDeletion / Duplication: HDT Array
Marfan syndrome (MFS), Loeys-Dietz syndrome, type 1A (LDS1A) and Loeys-Dietz syndrome, type 1B (LDS1B) FBN1, TGFBR1 & TGFBR2 154700, 609192 & 610168 DNA Sequencing
Marfan syndrome, type I (MFS1) FBN1 154700 DNA SequencingDeletion / Duplication: HDT Array
Marfan syndrome, type I / II (MFS1 / MFS2) FBN1 & TGFBR2 154700 & 610168 DNA Sequencing
Marfan syndrome, type II (MFS2) TGFBR2 610168 DNA SequencingDeletion / Duplication: HDT Array
Marshall syndrome COL11A1 154780 DNA SequencingDeletion / Duplication: HDT Array
Melnick-Needles syndrome (MNS) FLNA 309350 DNA Sequencing
Menkes disease (MK) ATP7A 309400 DNA SequencingDeletion / Duplication: HDT Array
Metaphyseal anadysplasia 1 (MANDP1) MMP13 602111 DNA SequencingDeletion / Duplication: HDT Array
Metaphyseal anadysplasia 1 (MANDP1) and Metaphyseal anadysplasia 2 (MANDP2) MMP9 & MMP13 602111 & 613073 DNA Sequencing
Metaphyseal anadysplasia 2 (MANDP2) MMP9 613073 DNA SequencingDeletion / Duplication: HDT Array
Metaphyseal chondrodysplasia, Schmid type (MCDS) COL10A1 156500 DNA Sequencing
Metaphyseal dysplasia without hypotrichosis (CHHV) RMRP 250460 DNA Sequencing
Metatropic dysplasia TRPV4 156530 DNA Sequencing
Muenke syndrome (MNKES) FGFR3 602849 DNA Sequencing
Multiple epiphyseal dysplasia (MED) COMP 132400 DNA Sequencing
Multiple epiphyseal dysplasia (MED) panel COMP, COL9A1, COL9A2, COL9A3, MATN3 & DTDST 132400, 614135, 600204, 600969, 607078 & 226900 DNA Sequencing
Nail-patella syndrome (NPS) LMX1B 161200 DNA Sequencing
Occipital horn syndrome (OHS) ATP7A 304150 DNA SequencingDeletion / Duplication: HDT Array
Omodysplasia 1 (OMOD1) GPC6 258315 DNA SequencingDeletion / Duplication: HDT Array
Osteoarthritis with mild chondrodysplasia COL2A1 604864 DNA Sequencing
Osteogenesis imperfecta, type IX PPIB 259440 DNA SequencingDeletion / Duplication: HDT Array
Osteogenesis imperfecta, type V IFITM5 610967 DNA SequencingDeletion / Duplication: HDT Array
Osteogenesis imperfecta, type VI SERPINF1 613982 DNA SequencingDeletion / Duplication: HDT Array
Osteogenesis imperfecta, type VII CRTAP 610682 DNA SequencingDeletion / Duplication: HDT Array
Osteogenesis imperfecta, type VIII LEPRE1 610915 DNA SequencingDeletion / Duplication: HDT Array
Osteogenesis imperfecta, type X SERPINH1 613848 DNA SequencingDeletion / Duplication: HDT Array
Osteogenesis imperfecta, type XI FKPB10 610968 DNA SequencingDeletion / Duplication: HDT Array
Osteogenesis imperfecta, type XII SP7 613849 DNA SequencingDeletion / Duplication: HDT Array
Osteogenesis imperfecta, type XIII BMP1 614856 DNA SequencingDeletion / Duplication: HDT Array
Osteogenesis imperfecta, types I, II, III & IV COL1A1 & COL1A2 613982 DNA SequencingDeletion / Duplication: HDT Array
Osteogenesis imperfecta, types VI, VII, VIII, IX, X, XI, XII & XIII SERPINF1, CRTAP, LEPRE1, PPIB, SERPINH1, FKBP10, SP7 & BMP1 613982, 610682, 610915, 259440, 613848, 610968, 613849 & 614856 DNA Sequencing
Osteopetrosis with renal tubular acidosis 3 (OPTB3) CA2 259730 DNA SequencingDeletion / Duplication: HDT Array
Osteopetrosis, autosomal dominant 1 (OPTA1) LRP5 607634 DNA SequencingDeletion / Duplication: HDT Array
Osteopetrosis, autosomal dominant 2 (OPTA2) CLCN7 166600 DNA SequencingDeletion / Duplication: HDT Array
Osteopetrosis, autosomal recessive 1 (OPTB1) TCIRG1 259700 DNA SequencingDeletion / Duplication: HDT Array
Osteopetrosis, autosomal recessive 1, 4, 5 (OPTB1 / 4 / 5) TCIRG1, CLCN7, OSTM1 259700, 611490 & 259720 DNA Sequencing
Osteopetrosis, autosomal recessive 2 (OPTB2) TNFSF11 259710 DNA SequencingDeletion / Duplication: HDT Array
Osteopetrosis, autosomal recessive 4 (OPTB4) CLCN7 611490 DNA SequencingDeletion / Duplication: HDT Array
Osteopetrosis, autosomal recessive 5 (OPTB5) OSTM1 259720 DNA SequencingDeletion / Duplication: HDT Array
Osteopetrosis, autosomal recessive 6 (OPTB6) PLEKHM1 611497 DNA Sequencing
Osteopetrosis, autosomal recessive 7 (OPTB7) TNFRSF11A 612301 DNA SequencingDeletion / Duplication: HDT Array
Osteoporosis-pseudoglioma syndrome (OPPG) LRP5 259770 DNA SequencingDeletion / Duplication: HDT Array
Otopalatodigital syndrome, type I (OPD1 & OPD2) FLNA 311300, 304120 DNA Sequencing
Otospondylomegaepiphyseal dysplasia (OSMED) COL11A2 215150 DNA SequencingDeletion / Duplication: HDT Array
Pallister-Hall syndrome (PHS) GLI3 146510 DNA SequencingDeletion / Duplication: HDT Array
Parastremmatic dwarfism TRPV4 168400 DNA Sequencing
Parkes Weber syndrome (PKWS) RASA1 608355 DNA SequencingDeletion / Duplication: HDT Array
Periventricular heterotopia, Ehlers-Danlos variant (PVNH4) FLNA 300537 DNA Sequencing
Periventricular heterotopia, X-linked dominant (PVNH1) FLNA 300049 DNA Sequencing
Pfeiffer syndrome FGFR1 & FGFR2 101600 DNA Sequencing
Platyspondylic lethal skeletal dysplasia, Torrance type (PLSDT) COL2A1 151210 DNA SequencingDeletion / Duplication: HDT Array
Polydactyly, postaxial, type A1 (PAPA1) GLI3 174200 DNA SequencingDeletion / Duplication: HDT Array
Polydactyly, preaxial IV GLI3 174700 DNA SequencingDeletion / Duplication: HDT Array
Progressive pseudorheumatoid arthropathy of childhood (PPAC) WISP3 208230 DNA SequencingDeletion / Duplication: HDT Array
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) FLVCR2 225790 DNA SequencingDeletion / Duplication: HDT Array
Pseudoachondroplasia (PSACH) COMP 177170 DNA Sequencing
Rickets, hypophosphatemic, autosomal dominant (ADHR) FGF23 193100 DNA Sequencing
Rickets, hypophosphatemic, autosomal recessive, 1 (ARHR1) DMP1 241520 DNA SequencingDeletion / Duplication: HDT Array
Rickets, hypophosphatemic, autosomal recessive, 2 (ARHR2) ENPP1 613312 DNA SequencingDeletion / Duplication: HDT Array
Rickets, hypophosphatemic, X-linked dominant (XLH) PHEX 307800 DNA SequencingDeletion / Duplication: HDT Array
Rickets, vitamin D-dependent, type I (VDDR I) CYP27B1 264700 DNA SequencingDeletion / Duplication: HDT Array
Saethre-Chotzen syndrome (SCS) TWIST1 & FGFR3 101400 DNA SequencingDeletion / Duplication: HDT Array
Scapuloperoneal spinal muscular atrophy (SPSMA) TRPV4 181405 DNA Sequencing
Schwartz-Jampel syndrome, type 1 (SJS1) HSPG2 255800 DNA SequencingDeletion / Duplication: HDT Array
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) FGFR3 - DNA Sequencing
Short rib-polydactyly syndrome, type II (SRPS2) NEK1 263520 DNA SequencingDeletion / Duplication: HDT Array
Short rib-polydactyly syndrome, type III (SRPS3) DYNC2H1 263510 DNA SequencingDeletion / Duplication: HDT Array
Short rib-polydactyly syndrome, type V (SRPS5) WDR35 614091 DNA SequencingDeletion / Duplication: HDT Array
Shprintzen-Goldberg craniosynostosis syndrome (SGS) SKI 182212 DNA SequencingDeletion / Duplication: HDT Array
Smith-McCort dysplasia (SMC) DYM 607326 DNA SequencingDeletion / Duplication: HDT Array
Spinal muscular atrophy, distal, congenital nonprogressive TRPV4 600175 DNA Sequencing
Spinal muscular atrophy, distal, X-linked 3 (SMAX3) ATP7A 300489 DNA SequencingDeletion / Duplication: HDT Array
Spondylocarpotarsal synostosis syndrome (SCT) FLNB 272460 DNA SequencingDeletion / Duplication: HDT Array
Spondyloepimetaphyseal dysplasia, Missouri type (SEMD, Missouri type) MMP13 602111 DNA SequencingDeletion / Duplication: HDT Array
Spondyloepimetaphyseal dysplasia, Strudwick type (SEMD) COL2A1 184250 DNA SequencingDeletion / Duplication: HDT Array
Spondyloepiphyseal dysplasia congenita (SEDc) COL2A1 183900 DNA SequencingDeletion / Duplication: HDT Array
Spondyloepiphyseal dysplasia tarda, X-linked (SEDT) SEDL 313400 DNA SequencingDeletion / Duplication: HDT Array
Spondyloepiphyseal dysplasia with congenital joint dislocations CHST3 143095 DNA SequencingDeletion / Duplication: HDT Array
Spondyloepiphyseal dysplasia, Maroteaux type TRPV4 184095 DNA Sequencing
Spondylometaphyseal dysplasia, Kozlowski type (SMDK) TRPV4 184252 DNA Sequencing
Spondyloperipheral dysplasia COL2A1 271700 DNA SequencingDeletion / Duplication: HDT Array
Stickler syndrome, autosomal recessive (COL9A1, COL9A2 & COL9A3) COL9A1, COL9A2 & COL9A3 614134 & 614284 DNA SequencingDeletion / Duplication: HDT Array
Stickler syndrome, type I (STL1) COL2A1 108300 DNA SequencingDeletion / Duplication: HDT Array
Stickler syndrome, type I / II (STL1 / STL2) COL2A1 & COL11A1 108300 & 604841 DNA Sequencing
Stickler syndrome, type II (STL2) COL11A1 604841 DNA SequencingDeletion / Duplication: HDT Array
Stickler syndrome, type III (STL3) COL11A2 184840 DNA SequencingDeletion / Duplication: HDT Array
Stuve-Wiedemann syndrome (STWS) LIFR 601559 DNA SequencingDeletion / Duplication: HDT Array
Thanatophoric dysplasia, type I / II (TD1 / TD2) FGFR3 187600 & 187601 DNA Sequencing
Three M syndrome 1 (3M1) CUL7 273750 DNA SequencingDeletion / Duplication: HDT Array
Three M syndrome 2 (3M2) OBSL1 612921 DNA SequencingDeletion / Duplication: HDT Array
Three M syndrome 3 (3M3) CCDC8 614205 DNA SequencingDeletion / Duplication: HDT Array
Thrombocytopenia and absent radius syndrome (TAR) RBM8A 274000 DNA SequencingDeletion / Duplication: HDT Array
Tooth agenesis, selective, 1 (STHAG1) MSX1 106600 DNA SequencingDeletion / Duplication: HDT Array
Torg-Winchester syndrome MMP2 259600 DNA SequencingDeletion / Duplication: HDT Array
Treacher Collins syndrome 1 (TCS1) TCOF1 154500 DNA SequencingDeletion / Duplication: HDT Array
Treacher Collins syndrome 2 (TCS2) POLR1D 613717 DNA SequencingDeletion / Duplication: HDT Array
Treacher Collins syndrome 3 (TCS3) POLR1C 248390 DNA SequencingDeletion / Duplication: HDT Array
Trichorhinophalangeal syndrome, type I (TRPS I) TRPS1 190350 DNA SequencingDeletion / Duplication: HDT Array
Trichorhinophalangeal syndrome, type III (TRPS III) TRPS1 190351 DNA SequencingDeletion / Duplication: HDT Array
Ullrich congenital muscular dystrophy COL6A1, COL6A2 & COL6A3 254090 DNA SequencingDeletion / Duplication: HDT Array
Van Buchem disease, type 2 (VBCH2) LRP5 607636 DNA SequencingDeletion / Duplication: HDT Array
Wagner syndrome (WGN1) CSPG2 143200 DNA SequencingDeletion / Duplication: HDT Array
Weill-Marchesani syndrome (WMS), autosomal dominant FBN1 608328 DNA SequencingDeletion / Duplication: HDT Array
Weill-Marchesani syndrome (WMS), autosomal recessive ADAMTS10 277600 DNA SequencingDeletion / Duplication: HDT Array
Weissenbacher-Zweymuller syndrome (WZS) COL11A2 277610 DNA SequencingDeletion / Duplication: HDT Array
Weyers acrofacial dysostosis EVC & EVC2 193530 DNA SequencingDeletion / Duplication: HDT Array
Wilson disease ATP7B 277900 DNA SequencingDeletion / Duplication: HDT Array
Witkop syndrome MSX1 189500 DNA SequencingDeletion / Duplication: HDT Array
Wolcott-Rallison syndrome EIF2AK3 226980 DNA SequencingDeletion / Duplication: HDT Array

Known Mutation - any above

Methodologies

DNA Sequencing DNA Sequencing   Deletion / Duplication: HDT ArrayDeletion / Duplication: HDT Array

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