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DLD Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
DLD
Disorders:
Clinical Utility:
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder
  • Prenatal diagnosis for known familial mutation(s) in nuclear genes in at-risk pregnancies
Lab Method:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View 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)
  • 425.1: Hypertrophic obstructive cardiomyopathy, Hypertrophic subaortic stenosis (idiopathic)
  • 276.2: Acidosis Acidosis
  • 389.1: Sensorineural hearing loss, unspecified
  • 250: Diabetes mellitus
  • 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. Milone, M. and Massie, R. (2010) Neurologist 16:84-91
  2. Stewart et al., (2008) Neurology 71:1829-31
  3. Chinnery, P. Gene Reviews (2006) Mitochondrial Disorders Overview
  4. Zhu et al., (2009) Acta Biochim Biophys Sin 41:179-187
  5. Oliveira et al., (2005) Dev Med Child Neurol 47:185-189
  6. Tarnopolsky, M and Raha S. (2005) Med Sci Sports Exerc 37:2086-93
  7. van Adel, B. and Tarnopolsky, M. (2009) J Clin Neuromusc Dis 10:97-121
  8. Longo, N. (2003) Neurol Clin N Am 21:817-831
  9. Bennett S.(2004) Pharmacogenomics 5:433-8
  10. Spinazzola et al., (2009) J Inherit Metab Dis 32:143-58

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