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SLC22A5 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
SLC22A5
Disorders:
Clinical Utility:
  • Confirmation of biochemical diagnosis
  • To confirm maternal PCD
  • Carrier testing
  • Prenatal diagnosis 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:
  • 277.81: Primary carnitine deficiency
  • 796.6: Abnormal findings on neonatal screening
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Schimmenti et al., (2007) Mol Genet Metab 90:441-445
  2. Amat di San Filippo et al., (2006) Hum Mutat 27(6):513-523
  3. Lamhonwah et al., (2002) Am J Med Genet 111:271-284
  4. Wang et al., (2001) Genet Med 3(6):387-392
  5. Wang et al., (2000) Hum Mutat 16:401-407
  6. Li et al., (2010) Hum Mutat 31:E1632-51
  7. Tein et al., (1990) Ped Res 28:247-255
  8. Waber et al.,(1982) J Ped 101:700-705
  9. Treem et al., (1988) NEJM 319:1331-1336

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