Ehlers-Danlos VIIC



Test Description:

Ehlers-Danlos syndromes are a group of connective tissue diseases characterized by joint hyperlaxity, hyperelasticity of skin, and tissue fragility. Ehlers-Danlos type VIIC, also known as the dermatosparaxis type, is a very rare autosomal recessive disease and is characterized by extremely fragile skin. About half of the patients described in the literature are of Ashkenazi Jewish origin, where all patients were found to be homozygous for the p.Q225* mutation in the ADAMTS2 gene. Testing for this variant, along with the p.W795* variant, is expected to identify over 95% of carriers in the Ashkenazi Jewish population, where the carrier frequency is about 1 in 187.

Full gene sequencing is available for reproductive partners of known mutation carriers. Prenatal diagnosis is also available. Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.

References:

1. Colige A, Sieron AL, Li SW, Schwarze U, Petty E, Wertelecki W, Wilcox W, Krakow D, Cohn DH, Reardon W, Byers PH, Lapière CM, Prockop DJ, Nusgens BV. Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. Am J Hum Genet. 1999 Aug65(2):308-17


Forms and Brochures


2. Bar-Yosef O, Polak-Charcon S, Hoffman C, Feldman ZP, Frydman M, Kuint J. Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC. Am J Med Genet A. 2008 Dec 1146A(23):3054-7.



Specimen Requirements


Post-natal

Two 5-10 mL tubes of anticoagulated blood in EDTA (lavender top) or two 5-10 mL tubes of anticoagulated blood in ACD (yellow top).

Prenatal

Chorionic Villi: 5-10 mg in conical tube with sterile saline OR transport media
Amniotic Fluid: 10 ml in conical tube
Cultured Cells: Two confluent T-25 flasks

Additionally, please send:

5-10 ml maternal blood in EDTA (lavender top) required to perform MCC studies on all prenatal samples and in case maternal confirmation studies are necessary
5-10 ml paternal blood in EDTA (lavender top) in case paternal confirmation studies are necessary

Ordering Information


Shipping:

Ship at room temperature

Turnaround Time:

10 – 14 days

CPT Codes:

81401


Forms and Brochures


Carrier Screening Requisition and Consent [PDF]
Expanded Ashkenazi Jewish Carrier Screening Brochure [PDF]
Ashkenazi Jewish Carrier Screening Panel