Ehlers-Danlos syndrome NGS panel - Dominant & Recessive

The dominant & recessive Ehlers-Danlos syndrome NGS panel is designed to detect mutations in genes that cause clinical features related to Ehlers-Danlos syndrome (EDS). EDS is a connective tissue disorder characterized by joint hypermobility, skin hyperextensibility and tissue fragility. There are numerous subtypes of EDS each with distinct genetic and clinical findings. CTGT offers several panel options for Ehlers-Danlos syndrome testing including a classic type panel, a core panel, a dominant panel, a recessive panel and a combined dominant and recessive panel. In addition to genes associated with the dominant and recessive forms of EDS, the panels also contain genes for disorders included in the differential diagnosis of EDS.

The dominant & recessive Ehlers-Danlos syndrome NGS panel consists of twenty-one genes: ADAMTS2, AEBP1, ATP7A, B3GALT6,  B4GALT7, C1R, C1S, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COL12A1, DSE, FKBP14, FLNA, PLOD1, PRDM5, SLC39A13 and ZNF469.

Copy number variation (CNV) analysis of the dominant & recessive Ehlers-Danlos syndrome 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

Dominant EDS Panel 

Gene Disorder MIM Inheritance
C1R Ehlers-Danlos syndrome, periodontal type 1 (EDSPD1) 130080 AD
C1S Ehlers-Danlos syndrome, periodontal type 2 (EDSPD2) 617174 AD
COL5A1 Ehlers-Danlos syndrome, classic type, 1 (EDSCL1) 130000 AD
COL5A2 Ehlers-Danlos syndrome, classic type, 2 (EDSCL2) 130010 AD
COL3A1 Ehlers-Danlos syndrome, vascular type (EDSVASC) 130050 AD
COL1A1 Ehlers-Danlos syndrome, arthrochalasia type, 1 (EDSARTH1) 130060 AD
COL1A2 Ehlers-Danlos syndrome, arthrochalasia type, 2 (EDSARTH2) 617821 AD
COL12A1 Bethlem myopathy 2 (BTHLN2) 616471 AD
FLNA Periventricular nodular heterotopia 1 (PVNH1) 300049 XLD

 

Recessive EDS Panel

Gene Disorder MIM Inheritance
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
CHST14 Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) 601776 AR
COL1A2 Ehlers-Danlos syndrome, cardiac valvular type (EDSCV) 225320 AR
DSE Ehlers-Danlos syndrome, musculocontractural type, 2 (EDSMC2) 615539 AR
FKBP14 Ehlers-Danlos syndrome, kyphoscoliotic type, 2 (EDSKSCL2) 614557 AR
PLOD1 Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (EDSKSCL1) 225400 AR
PRDM5 Brittle cornea syndrome 2 (BCS2) 614170 AR
SLC39A13 Ehlers-Danlos syndrome, spondylodysplastic type, 3 (EDSSPD3) 612350 AR
ZNF469 Brittle cornea syndrome 1 (BCS1) 229200 AR

Genes(s)

C1S ADAMTS2 AEBP1 COL1A2 COL12A1 FKBP14 SLC39A13 COL3A1 ATP7A DSE COL1A1 PLOD1 COL5A1 CHST14 B4GALT7 ZNF469 PRDM5 COL5A2 B3GALT6 FLNA C1R

Disease Group(s)

Cardiovascular disorders Connective tissue Skin, Tooth, Hair and Nail disorders

MIM

130060 130010 225410 130050 601776 614505 612350 304150 130000 300537 225400

Billing

81408 x 1,81479 x 1

Ordering

Test Code
5069
Additional Test Codes
5067 —Next Generation Sequencing Only, 5068 — 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.