Central Hypoventilation and Apnea Panel

The Blueprint Genetics Central Hypoventilation and Apnea Panel is a 15 gene diagnostic tool developed for patients with clinical suspicion of congenital central hypoventilation syndrome (CCHS), ganglioneuroma, Haddad syndrome, Hirschsprung disease (HSCR) or neuroblastoma.

Clinical Research Prenatal Carrier

Test Details
Disorder◦ Congenital Central Hypoventilation Syndrome
◦ Hirschsprung Disease
Type◦ Molecular
◦ Multi-Gene Panel
◦ Multi-Method Panel
Method◦ Del/Dup (CNV)
◦ Sequencing, Next Gen
GenesCHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, EDN3, GLRA1, MECP2, PHOX2B, RAPSN, RET, SCN4A, SLC6A5, ZEB2
Ordering
Test CodePU0401
Test URLhttp://pulmonology.blueprintgenetics.com/panels/central-hypoventilation-and-apnea-panel/
Turnaround Time3-4 weeks
Preferred SpecimenEDTA blood, min. 1 ml
Alternate SpecimenPurified DNA, min. 5 μg. Saliva (Oragene DNA OG-500 kit)
Shippinghttp://blueprintgenetics.com/faqs/#shipping
Billing
Billing InfoInvoices are sent when clinical statement of the genetic test is available for the customer. Please visit http://blueprintgenetics.com/faqs/#invoicing for more details.
ICD-10◦ C47 - Malignant neoplasm of peripheral nerves and autonomic nervous system
◦ D36.1 - Peripheral nerves and autonomic nervous system
◦ G47.3 - Sleep apnoea
◦ Q43.1 - Hirschsprung's disease
New York Approved
 

Laboratory

Blueprint Genetics
Tukholmankatu 8, Biomedicum 2U
Helsinki
00290
Finland

email: support@blueprintgenetics.com

Lab Details

 

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