Stanford Hospital & Clinics and Lucile Packard Children’s Hospital
RESULT
Test Name : NPC2/HE1 Gene Analysis in Niemann-Pick Disease, Type C Order Code : 12520R
Note: This is a Sendout/Referred Test and is only offered to registered patients of SHC or LPCH.
Synonyms: Niemann-Pick Disease, NPC2
Specimen Type: Whole Blood, Buccal Brushes
Container Type: Lavender-top tube (EDTA)
Required Volume: 1-5 mL
Minimum Volume (Pediatric): 1-2 mL
Turnaround Time: 4 weeks
Special Handling: Blood: A single tube with 1-5 mL whole blood in EDTA (1-2mL for infants). Ship overnight at ambient temperature, using a cool pack in hot weather. Specimens may be refrigerated for one week prior to shipping. Buccal Brushes: When sending a buccal sample, use a GeneDx buccal kit (others not accepted). Submit by mail. Buccal brushes are not accepted on children under 6 months of age. Prenatal Diagnosis: 10 mL amniotic fluid, 5 mg CVS, or 2 T25 flasks. Ship overnight at ambient temperature, using a cool pack in hot weather. Call to discuss requirements for parental blood. Keep backup cultures.
CPT Codes: 83891 x 4, 83892 x 2, 83894 x 4, 83898 x 8, 83904 x 10, 83912 x 2
LPCH EPIC Code: LAB3062
SHC EPIC Code: LAB12520R
Department: Sendouts
Sendout Lab: GeneDx
URL: http://www.genedx.com/test-catalog/available-tests/npc2-gene-sequencing