Congenital Central Hypoventillation Syndrome (CCHS)

CERNER / EPIC MNEMONIC:

CCHS DNA

POE DESCRIPTION:

CCHS DNA

CPT CODE:

81479

CDM NUMBER:

3301025, 3301023, 3301110, 3301059

DAYS PERFORMED:

Mon-Fri, 0800-1500

TURNAROUND TIME:

2 weeks

SPECIAL INSTRUCTIONS:

Download order form

CONTAINER TYPE:

Lavender top (EDTA) tube

SPECIMEN REQUIREMENTS:

7 mL

REJECTION CRITERIA:

Hemolyzed blood

MINIMUM VOLUME:

3 mL

HANDLING INSTRUCTIONS:

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.

REFERENCE RANGE:

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.

METHODOLOGY:

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.

LAST UPDATED:

2-4-2014

TEST SYNONYM(S):PHOX2b Gene