Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015.  We will resume our normal schedule on Tuesday, September 8, 2015.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

POLG Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
POLG
Disorders:
Clinical Utility:
  • Confirmation of biochemical and clinical diagnosis
  • Carrier testing
  • Prenatal diagnosis when familial mutations are known
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
394
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 Neurology Billing Policy
ICD Codes:
  • 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)
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. McFarland et al., (2008) Arch Dis Child 93:151-153
  2. Horvath et al., (2006) Brain 129:1674-1684
  3. Wong et al., (2008) Hum Mutat 29:E150-E172
  4. Blok et al., (2009, Jul 2) J Med Genet [Epub ahead of print]
  5. Agostino et al., (2003) Neurology 60:1354-1356

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