|CERNER / EPIC MNEMONIC:||
3301025, 3301023, 3301110, 3301059
Lavender top (EDTA) tube
Leave specimen at room temperature and deliver to the laboratory as soon as possible. If sample must be stored overnight, put in refrigerator. DO NOT FREEZE.
Normal alleles contain 20 repeats although non-disease causing deleted variants with 14 and 15 repeats have been seen in the normal population. CCHS-associated alleles contain 25-33 repeats.
PCR analysis of the region in exon 3 of PHOX2b coding for the CCHS-associated polyalanine repeat expansion mutation is conducted using primers flanking this region. The number of alanine-coding triplet repeats in each PHOX2b allele is quantitated via polyacrylamide gel electrophoresis of the PCR product and compared with known standard alleles.
|TEST SYNONYM(S):||PHOX2b Gene|