Connective tissue disorder NGS panel

Connective tissue disorder panel focuses mainly on disorders of soft connective tissues including skin, ligaments, tendons, and vascular tissues. The panel includes various related disorders such as Ehlers-Danlos syndrome, Loeys-Dietz syndrome, Marfan syndrome, and thoracic aortic aneurysms.

Connective tissue disorder NGS panel consists of forty-seven genes: ACTA2, ADAMTS2, AEBP1, ATP7A, B3GALT6, B4GALT7, BGN, C1R, C1S, CBS, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COL12A1, DCHS1, DSE, FBN1, FBN2, FKBP14, FLCN, FLNA, FOXE3, LOX, LTBP3, MAT2A, MFAP5, MED12, MYH11, MYLK, NOTCH1, PRKG1, PLOD1, PRDM5, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, and ZNF469.

Copy number variation (CNV) analysis of the Connective tissue disorder panel genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests, unless otherwise indicated.

Gene
Disorder
MIM
Inheritance
ACTA2
 Aortic aneurysm, familial thoracic 6 (AAT6) 
 Multisystemic smooth muscle dysfunction syndrome
611788
613834
AD
ADAMTS2
 Ehlers-Danlos syndrome, dermatosparaxis type (EDSDERMS)
225410
AR
AEBP1
 Ehlers-Danlos syndrome, classic-like, 2 (EDSCLL2)
618000
AR
ATP7A
 Occipital horn syndrome (OHS)
304150
XLR
B3GALT6
 Ehlers-Danlos syndrome, spondylodysplastic type, 2 (EDSSPD2)
615349
AR
B4GALT7
 Ehlers-Danlos syndrome, spondylodysplastic type, 1 (EDSSPD1)
130070
AR
BGN
 Meester-Loeys syndrome (MRLS)
300989
XL
C1R
 Ehlers-Danlos syndrome, periodontal type 1 (EDSPD1)
130080
AD
C1S
 Ehlers-Danlos syndrome, periodontal type 2 (EDSPD2)
617174
AD
CBS
 Homocystinuria due to cystathionine beta-synthase deficiency
236200
AR
CHST14
 Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1)
601776
AR
COL1A1
 Ehlers-Danlos syndrome, arthrochalasia type, 1 (EDSARTH1)
 Osteogenesis imperfecta, type I / II / III / IV
130060
166200, 166210, 259420, 166220
AD
AD
COL1A2
 Ehlers-Danlos syndrome, arthrochalasia type, 2 (EDSARTH2)
 Ehlers-Danlos syndrome, cardiac valvular type (EDSCV) 
 Osteogenesis imperfecta, type II / III / IV
617821
225320
166210, 259420, 166220
AD
AR
AD
COL3A1
 Ehlers-Danlos syndrome, type IV (EDSVASC)
130050
AD
COL5A1
 Ehlers-Danlos syndrome, classic type, 1 (EDSCL1)
130000
AD
COL5A2
 Ehlers-Danlos syndrome, classic type, 2 (EDSCL2)
130000
AD
COL12A1
 Bethlem myopathy 2 (BTHLN2)
616471
AD
DSE
 Ehlers-Danlos syndrome, musculocontractural type 2 (EDSMC2)
615539
AR
DCHS1
 Mitral valve prolapse 2 (MVP2)
 Van Maldergem syndrome 1 (VMLDS1)
607829
601390
AD
AR
FBN1
 Marfan syndrome (MFS)
154700
AD
FBN2
 Arthrogryposis, distal, type 9 (DA9)
121050
AD
FKBP14
 Ehlers-Danlos syndrome, kyphoscolotic type, 2 (EDSKSCL2)
614557
AR
FLCN
 Birt-Hogg-Dube syndrome (BHD)
 Pneumothorax, primary spontaneous (PSP)
135150
173600
AD
AD
FLNA
 Cardiac valvular dysplasia, X-linked (CVD1) 
 Periventricular nodular heterotopia 1 (PVNH1)
314400
300049
XLR
XLD
FOXE3
 Aortic aneurysm, familial thoracic 11, susceptibility to (AAT11)
617349
AD
LOX
 Aortic aneurysm, familial thoracic 10 (AAT10)
617168
AD
LTBP3
 Aortic aneurysm and dissection, LTBP3 related
-
AD/AR
MAT2A
 MAT2A related aortic aneurysm, familial thoracic
-
AD
MFAP5
 Aortic aneurysm, familial thoracic 9 (AAT9)
616166
AD
MED12
 Lujan-Fryns syndrome
309520
XLR
MYH11
 Aortic aneurysm, familial thoracic 4 (AAT4)
132900
AD
MYLK
 Aortic aneurysm, familial thoracic 7 (AAT7)
613780
AD
NOTCH1
 Aortic valve disease 1 (AOVD1)
109730
AD
PLOD1
 Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (EDSKSCL1)
225400
AR
PRDM5
 Brittle cornea syndrome 2 (BSC2)
614170
AR
PRKG1
 Aortic aneurysm, familial thoracic 8 (AAT8)
615436
AD
SKI
 Shprintzen-Goldberg craniosynostosis syndrome (SGS)
182212
AD
SLC2A10
 Arterial tortuosity syndrome (ATS)
208050
AR
SLC39A13
 Ehlers-Danlos syndrome, spondylodysplastic type, 3 (EDSSPD3)
612350
AR
SMAD2
 Aortic aneurysm and dissection, SMAD2 related
-
AD
SMAD3
 Loeys-Dietz syndrome 3 (LDS3)
613795
AD
SMAD4
 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JPHT)
175050
AD
TGFB2
 Loeys-Dietz syndrome 4 (LDS4)
614816
AD
TGFB3
 Loeys-Dietz syndrome 5 (LDS5)
615582
AD
TGFBR1
 Loeys-Dietz syndrome 1 (LDS1)
609192
AD
TGFBR2
 Loeys-Dietz syndrome 2 (LDS2)
610168
AD
ZNF469
 Brittle cornea syndrome 1 (BSC1)
229200
AR

Genes(s)

SMAD2 SMAD4 ACTA2 C1S LOX ADAMTS2 AEBP1 BGN TGFBR2 MYLK COL1A2 MED12 TGFBR1 COL12A1 NOTCH1 FBN1 CBS MYH11 FKBP14 FLCN SLC39A13 FOXE3 COL3A1 ATP7A DSE COL1A1 PLOD1 LTBP3 COL5A1 PRKG1 CHST14 TGFB2 B4GALT7 FBN2 ZNF469 PRDM5 MFAP5 COL5A2 B3GALT6 FLNA SMAD3 DCHS1 SKI TGFB3 MAT2A C1R SLC2A10

Disease Group(s)

Connective tissue

Billing

81405 x 1,81406 x 1,81407 x 1,81408 x 1,81479 x 1

Ordering

Test Code
5435
Additional Test Codes
5433 —Next Generation Sequencing Only, 5434 — Deletion / Duplication Only
Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Prenatal Specimens
Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples Genomic DNA: minimum of 3 µg (at a concentration of at least 30 ng/µl)
Non-Prenatal Specimens
Whole blood: purple-top (EDTA) tube, minimum of 3 ml Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl) Fibroblasts: 2 confluent T-25 flasks Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Shipping
Ship all specimen types at room temperature by overnight courier. Do not freeze. For more details and to download the required forms, please visit our shipping page.

The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. HNL Lab Medicine strongly recommends confirmation of CPT codes with third-party payors and/or the AMA. We assume no responsibility for billing errors due to reliance upon CPT codes provided by HNL Lab Medicine.