3-Phosphoglycerate Dehydrogenase Deficiency



Test Description:

3-Phosphoglycerate Dehydrogenase Deficiency (3-PDD) is a rare autosomal recessive disorder caused by mutations in the gene PDGDH that can present in infancy or early childhood. Loss of function of the PDGDH gene results in defects in the synthesis of the amino acid serine. While few patients have been described in the literature, recurrent phenotypes include microcephaly, psychomotor retardation, and epilepsy, resulting from atrophy of the brain and hypomyelination. One patient of Ashkenazi Jewish ancestry was described in the literature this patient was homozygous for the p.V490M mutation. Further study of this mutation indicated that the carrier frequency in the Ashkenazi Jewish population was approximately 1 in 453. Testing for this mutation is expected to identify over 95% of 3-PDD-causing mutations in the Ashkenazi Jewish population.

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.

:

    . Klomp LW, de Koning TJ, Malingré HE, van Beurden EA, Brink M, Opdam FL, Duran M, Jaeken J, Pineda M, Van Maldergem L, Poll-The BT, van den Berg IE, Berger R. Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency–a neurometabolic disorder associated with reduced L-serine biosynthesis. Am J Hum Genet. 2000 Dec67(6):1389-99
    Pind S, Slominski E, Mauthe J, Pearlman K, Swoboda KJ, Wilkins JA, Sauder P, Natowicz MR. V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme. J Biol Chem. 2002 Mar 1277(9):7136-43.

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

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:

81400


Forms and Brochures


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