Lipoamide Dehydrogenase Deficiency (E3)

Test Description:
Lipoamide dehydrogenase deficiency (E3) is an autosomal recessive metabolic disorder. Although the classical form of this disease presents with severe and progressive neurological impairment with persistent lactic acidosis and high mortality, a milder, episodic form with no neurological involvement was described in Ashkenazi Jewish patients in Israel. The carrier frequency for E3 is estimated to be 1 in 107 in the Ashkenazi Jewish population. Screening for both p.G229C and p.Y35X in the DLD gene should identify greater than 95% of E3 carriers of Ashkenazi Jewish descent. Carrier screening for E3 may be considered for individuals of Eastern European (Ashkenazi) Jewish ancestry before/during pregnancy.

References:
1. Shaag A. et al., (1999) Molecular basis of Lipoamide dehydrogenase deficiency in Ashkenazi Jews. Am J Med Genet 82:177-182.
2. Scott, S.A., Edelmann, L., Liu, L., Luo, M., Desnick, R.J. and Kornreich, R. Experience with carrier screening and prenatal diagnosis for sixteen Ashkenazi Jewish Genetic Diseases. Hum. Mutat. 31:1-11, 2010.

Specimen Requirements:
Two 5-10 ml tubes of anticoagulated blood. The preferred anticoagulant is EDTA (lavendar top tubes), ACD (yellow top) tubes are also accepted.

Shipping: Send at room temperature.

Turnaround Time: 10-14 days

CPT Codes: 83891, 83892x2, 83900, 83912, 83914x2

Consent and Requisition Forms: Carrier Screening Requisition and Consent [PDF]

Additional Information: Jewish Genetic Screening Brochure [PDF]

Related Tests: Ashkenazi Jewish Carrier Test Panel

Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.