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PDHA1 Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
PDHA1
Disorders:
Clinical Utility:
  • 1. Confirmation of biochemical diagnosis
  • 2. Carrier testing
  • 3. Prenatal diagnosis in at risk pregnancies
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
461
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81406x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 276.2: Acidosis Acidosis
  • 277.87: Disorders of mitochondrial metabolism, Kearns-Sayre syndrome, Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome), Mitochondrial Neurogastrointestinal Encephalopathy syndrome (MNGIE), Myoclonus with Epilepsy and with Ragged Red Fibers (MERRF syndrome), Neuropathy, Ataxia and Retinitis Pigmentosa (NARP syndrome)
  • 330.8: Other specified cerebral degenerations in childhood, Alpers' disease or gray-matter degeneration, Infantile necrotizing encephalomyelopathy, Leigh's disease, Subacute necrotizing, encephalopathy or encephalomyelopathy
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Ridout et al., (2008) Hum Genet 124:187-193
  2. Lissens et al., (2000) Hum Mutat 15:209-219
  3. Brown et al., (2006) Dev Med Child Neurol 48:756-760
  4. Quintana et al., (2010) Clin Genet 77:474-482

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