PDHX Gene - Prenatal Diagnosis

The PDHX gene encodes the E3 binding protein component (formerly known as component X) of the pyruvate dehydrogenase complex (PDC).  The E3 binding protein binds the E3 component (dihydrolipoamide dehydrogenase, encoded by the DLD gene) to the E2 component (dihydrolipoamide transacetylase, encoded by the DLAT gene), which is the core of the pyruvate dehydrogenase complex.  Patients with PDHX mutations present with lactic acidosis, infantile encephalopathy, and reduced PDC activity in cultured skin fibroblasts, lymphocytes, or muscle.  Mutations of PDHX (as well as PDHB and DLD) are more common in consanguineous families, since these disorders are autosomal recessive.

PDHX Prenatal Diagnosis is available for families who have had a PDHX mutation identified through Pyruvate dehydrogenase complex deficiency - PDHX Gene Sequence Analysis or PDHX Gene- Known Familial Mutation Analysis performed in this laboratory or by special arrangement in advance with the director.

Indications for Testing

• Pregnancy known to be at risk for pyruvate dehydrogenase deficiency and a known PDHX familial mutation

OMIM #: 608769

Sample Requirements:

• Amniotic fluid or Cultured Amniocytes
• Chorionic Villi or Cultured Chorionic villi
• Contact laboratory genetic counselors or molecular director for specific sample requirements in advance.
• Maternal blood sample is also required for Maternal Cell Contamination studies. Send 5 mL purple top (EDTA) along with prenatal sample.

Sample handling: Specimens being sent from outside facilities should be packaged according to standard medical safety practices. The specimen should never be frozen. A cold pack should be placed in the container during warm summer months. The specimen should be shipped by overnight priority [scheduled to arrive by Friday AM at the latest].

Shipping Address:     Center for Human Genetics Laboratory
    10524 Euclid Ave, 6th Floor
    Cleveland, OH 44106
    216-983-1134

For local samples, please call the Center for Human Genetics Laboratory (216-983-1134) to arrange for sample pick-up.

Turn Around Time: 1 week

List Price/CPT codes: $1195.68  /  83890, 83894  (x3), 83898 (x3), 83900, 83901 (x14), 83904 (x6), 83909 (x7), 83912

Price of testing includes Maternal Cell Contamination study.