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92046: Dihydrolipoamide Dehydrogenase (DLD) Deficiency Print View
Result      
Interpretation      
Additional Information      
Reviewer      

PRIMARY
1 Whole Blood EDTA 5 (4) mL   Refrigerated - 8 Day(s)/Room Temperature - 14 Day(s)  
ALTERNATE
  Amniotic Fluid   Room Temperature - 8 Day(s)  
  Chorionic Villus Specimen   Room Temperature - 8 Day(s)  
  Whole Blood Heparin 5 (4) mL   Refrigerated - 8 Day(s)/Room Temperature - 14 Day(s)  
  Amniocytes Cultured   Room Temperature - 8 Day(s)  
  Whole Blood ACD 5 (4) mL   Refrigerated - 8 Day(s)/Room Temperature - 14 Day(s)  

The dihydrolipoamide dehydrogenase deficiency (DLDD) test offers molecular detection of two pathogenic variants in the DLD gene, G229C (c.685G>T) and Y35* (c.104dupA), which account for greater than 95% of Ashkenazi-Jewish DLDD variants. DLDD, also known as maple syrup urine disease type III, is an autosomal recessive disorder with clinical features that include lactic acidosis, hypotonia, poor feeding, vomiting, growth deficiencies and neurological deficits that include intellectual disability, spasticity and seizures.

Whole blood: Normal phlebotomy procedure. Specimen stability is
crucial. Store and ship room temperature immediately. Do not freeze.

For prenatal diagnosis with a fetal specimen: 1) parents must be
documented carriers of one of the mutations tested; 2) maternal blood
or DNA must be available; 3) contact the laboratory genetic counselor
before submission.

Amniotic fluid: Normal collection procedure. Specimen stability is
crucial. Store and ship room temperature immediately. Do not
refrigerate or freeze.

Amniocyte culture: Sterile T25 flask, filled with culture medium.
Specimen stability is crucial. Store and ship room temperature
immediately. Do not refrigerate or freeze.

Dissected chorionic villus (CVS) biopsy: 10-20 mg dissected chorionic
villi collected in sterile tube filled with sterile culture media.
Specimen stability is crucial. Store and ship room temperature
immediately. Do not refrigerate or freeze.

Forward cells to laboratory immediately!
Setup Schedule
Monday-Saturday

Reported (Analytical Time)
10 days

CPT Code
81479

The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Notes
Physician Attestation of Informed Consent This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA. Reject Criteria: Do not accept blood that is clotted, frozen, or shipped in damaged containers. Wrong test indication. Transport Temperature: Room temperature Methodology: PCR amplification of specific gene regions followed by nucleotide sequence analysis on a massively parallel sequencing platform






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