Central Hypoventilation Syndrome Panel (6 Genes)

Clinical Research Prenatal Carrier

Test Details
Disorder◦ Congenital Central Hypoventilation Syndrome
Type◦ Molecular
◦ Multi-Method Panel
◦ Multi-Gene Panel
Method◦ Del/Dup (CNV)
◦ Sequencing, Capillary (Sanger)
◦ Sequencing, Next Gen
GenesASCL1, BDNF, EDN3, GDNF, PHOX2B, RET
Ordering
Test URLhttp://personalizedmedicine.partners.org/Laboratory-For-Molecular-Medicine/Tests/Pulmonary-Disease/Central-Hypoventilation-Syndrome-Panel.aspx
Turnaround Time6-8 weeks
Preferred Specimen7ml of whole blood (3–5ml for an infant) in a lavender top tube (K2EDTA or K3EDTA)
Alternate Specimen10 ug of DNA at a minimum concentration of 25 ng/ul
 

Laboratory

Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
65 Landsdowne St
Cambridge
MA 02139
USA

email: lmm@partners.org

Lab Details

 

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