Lipoamide Dehydrogenase Deficiency

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.Y35* 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 or during pregnancy.

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. 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:

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).


  • 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

Shipping: Send at room temperature.

Turnaround Time: 10-14 days

CPT Code: 81401

Consent and requisition forms: Carrier Screening Requisition and Consent [PDF]

Additional information: Expanded Ashkenazi Jewish Carrier Screening brochure [PDF]

Related Tests: Ashkenazi Jewish Carrier Screening Panel

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