Test ID: ZH352
CPT code: 81229
LOINC:
Specimen Type: Green(hep) preferred, Yel (ACD), OR Lav (EDTA)OR buccal swab kit
Frequency: 14 – 17 days
Instructions: 4 mL Whole Blood from Green(hep)preferred, Yel (ACD), OR Lav (EDTA)OR buccal swab kit, Ambient. Min 2 mL (neonatal)OR two buccal swabs.
Text: This test will detect chromosomal imbalances that could be associated with developmental delay/congenital anomalies. It provides detection of possible uniparental disomy of any chromosome, the percent & location of homozygosity, including the degree of identity by descent.
Methodology: Performed using the Cytoscan® HD Accel platform, which uses 743,130 SNP probes and 2,029,441 NPCN probes with a median spacing of 0.818 kb.