Congenital Central Hypoventilation Syndrome Test

Ambry’s PHOX2B full gene sequence analysis is performed by PCR-based double-stranded automated sequencing in the sense and antisense directions for exons 1-3 of the PHOX2B gene, plus at least 5 bases into the 5’ and 3’ ends of all the introns. Alanine repeat numbers for the commonly-expanded region in exon 3 are determined and reported in all cases. Specific mutation analysis for known PHOX2B familial mutations is also available.

Clinical Research Prenatal Carrier

Test Details
Disorder◦ Congenital Central Hypoventilation Syndrome
◦ Neuroblastoma, Susceptibility
◦ PHOX2B-Related Neuroblastoma, Susceptibility
Type◦ Molecular
Method◦ Sequencing, Capillary (Sanger)
GenesPHOX2B
Ordering
Test Code1580
Test URLhttp://ambrygen.com/tests/congenital-central-hypoventilation-syndrome
Turnaround Time2-4 weeks
Preferred SpecimenWhole Blood
Alternate Specimenhttp://ambrygen.com/specimen-requirements
Shippinghttp://ambrygen.com/specimen-requirements
Billing
Billing Infohttp://www.ambrygen.com/billing-insurance-information
New York Approved
 

Laboratory

Ambry Genetics Corp, Ambry Genetics
15 Argonaut
Aliso Viejo
CA 92656
USA

email: geneticcounselor@ambrygen.com

Lab Details

 

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