Arthrogryposis, Mental Retardation and Seizures



Test Description:

Mutations in the SLC35A3 gene cause a syndrome characterized by arthrogryposis, mental retardation, autism spectrum disorder, and epilepsy. Patients also display microcephaly, retromicrognathia, seizures and muscle hypotonia, as well as developmental delay and intellectual disability. To date, this syndrome has only been reported in a single extended kindred of Ashkenazi Jewish descent, where two mutations (p.S296G and p.Q172*) were found to be causative. Screening of an Ashkenazi Jewish population identified a carrier frequency of approximately 1 in 453. Testing for both reported variants is expected to identify more than 95% of carriers.

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. Edvardson S, Ashikov A, Jalas C, Sturiale L, Shaag A, Fedick A, Treff NR, Garozzo D, Gerardy-Schahn R, Elpeleg O. Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis. J Med Genet. 2013 Nov50(11):733-9


Forms and Brochures




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