Dyskeratosis Congenita, Autosomal Recessive

Test Description:

Dyskeratosis congenital (DC) is a rare skin disorder that is associated with dysplastic nails, changes in skin pigmentation, and the formation of plaques on the mucous membranes of the mouth. Additionally, patients have a high risk of developing bone marrow failure and cancer. Most of the genes that cause DC encode proteins that are involved in the maintenance of telomere length. Mutations in ten genes are known to cause DC, and depending on the gene involved, the disease can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Several mutations in the gene RTEL1 have been found to cause DC in the Ashkenazi Jewish population. Testing for five mutations in this gene (p.R1264H, p.M516I, p.R981W, p.R998*, and p.G763V) is expected to identify over 95% of carriers in the Ashkenazi Jewish population, where the carrier frequency is approximately 1 in 165.

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.


1. Walne AJ1, Vulliamy T, Kirwan M, Plagnol V, Dokal I. Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. Am J Hum Genet. 2013 Mar 792(3):448-53.

2. Fedick AM1, Shi L, Jalas C, Treff NR, Ekstein J, Kornreich R, Edelmann L, Mehta L, Savage SA. Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population. Clin Genet. 2014 Jul 22.

Specimen Requirements


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).


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


Ship at room temperature

Turnaround Time:

10 – 14 days

CPT Codes:


Forms and Brochures

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