Connective Tissue Disorder NGS Panel

Test Code

C5435

Test Name

Connective Tissue Disorder NGS Panel

CPT Codes

81479

Expected Turnaround Time

Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.

Clinical Utility

Genetic analysis to provide a molecular diagnosis of a connective tissue disorder. This gene 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. Recommended for individuals with a personal and/or family history of a connective tissue disorder to ensure appropriate treatment and establish recurrence risk for family members.

Specimen and Container Info

Non-Prenatal Specimens

Preferred/Alternate	Specimen Type	Containers	Volume
Preferred Specimen Type	Whole Blood	Lavender Top (EDTA)	3 mL
Alternate Specimen Type	Genomic DNA	1.5 mL Tube	3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.
Alternate Specimen Type	Fibroblasts	T-25 Flasks	2 confluent T-25 flasks, filled to capacity
Alternate Specimen Type	Saliva (Whole blood is recommended for CNV)	DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children	Follow kit instructions (www.dnagenotek.com)

Prenatal Specimens

Either specimen type below is acceptable.

Specimen Type	Containers	Volume
Cultured cells	T-25 Flasks	2 confluent T-25 flasks derived from amnio or CVS samples.
Genomic DNA	1.5 mL Tube	3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.

Transport Instructions

Transport at room temperature within 24 hours.
If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours.

Stability Requirements

Room Temperature

24 hours

Refrigerated

72 hours

Causes for Rejection

Improperly labeled specimen (minimum of two patient identifiers)
Inappropriate specimen type
Incomplete or incorrect test request form
Insufficient volume
Specimen has leaked in transit
Specimen without a test order

Methodology

Next Generation Sequencing and Copy Number Variation Analysis

Performing Location

Genomics - Snowdrift

Alternate Names

Ehlers-Danlos syndome, Loeys-Dietz syndrome, Marfan syndrome, thoracic aortic aneurysms

Description

The 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.

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

Testing Schedule

Monday-Friday

Genes

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

Disease Group

Connective Tissue

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