SLC22A5 Gene Sequencing

Forms and Documents

Test Details

SLC22A5
  • Confirmation of biochemical diagnosis
  • To confirm maternal PCD
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing Reflex to Exon Array

Ordering

365
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)

Billing

81405x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 277.81 Primary carnitine deficiency
* 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