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)
Disease Group(s)
Billing
Ordering
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.