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PHOX2B
Test Code10346
CPT Codes
81403, 81404 (x2)<br /> Limited Access Code
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube, or ACD (yellow-top) tube
Minimum Volume
3 mL whole blood • 5 ug purified DNA • 15 mg fresh tissue/POC • 10 mL direct amniotic fluid • 5 mg chorionic villi
Other Acceptable Specimens
10 ug of purified DNA at a concentration of at least 100 ng/mcL • Two T25 flasks of confluent cells • 20 mg or 2 mm x 2 mm x 2 mm Fresh Tissue/Products of Conception • Saliva in Oragene ™ or GeneFIX™ saliva collection kit • OCD-100 buccal swab • Dried Blood Spots (DBS): 5 or more completely filled spots • 20 mL of direct amniotic fluid or 10 mg cleaned chorionic villus sampling (CVS) tissue in sterile media or saline
Instructions
Cell Culture: At least two, T25 flasks of confluent cells. Send specimens overnight in an insulated, shatterproof container.
Fresh Tissue/Products of Conception (POC):
20 mg (15 mg min) or 2 mm x 2 mm x 2 mm tissue.
- Direct Tissue: Tissue should be sent frozen.
- Tissue for cell culture: Send in sterile media or saline (not frozen).
Saliva: Oragene ™ or GeneFIX™ saliva collection kit used according to manufacturer instructions. Ship at room temperature.
Buccal: OCD-100 buccal swab preferred used according to manufacturer instructions. Ship at room temperature.
Dried Blood Spots (DBS): 5 or more completely filled spots, each 10 mm in diameter. Ship at room temperature after drying.
Direct Amniotic Fluid or Chorionic Villus Sampling (CVS): 20 mL (10 mL min) of direct amniotic fluid or 10 mg (5 mg min) cleaned CVS tissue in sterile media or saline. A back-up culture is required for ongoing pregnancies. Ship specimens overnight in an insulated, shatterproof container
Fresh Tissue/Products of Conception (POC):
20 mg (15 mg min) or 2 mm x 2 mm x 2 mm tissue.
- Direct Tissue: Tissue should be sent frozen.
- Tissue for cell culture: Send in sterile media or saline (not frozen).
Saliva: Oragene ™ or GeneFIX™ saliva collection kit used according to manufacturer instructions. Ship at room temperature.
Buccal: OCD-100 buccal swab preferred used according to manufacturer instructions. Ship at room temperature.
Dried Blood Spots (DBS): 5 or more completely filled spots, each 10 mm in diameter. Ship at room temperature after drying.
Direct Amniotic Fluid or Chorionic Villus Sampling (CVS): 20 mL (10 mL min) of direct amniotic fluid or 10 mg (5 mg min) cleaned CVS tissue in sterile media or saline. A back-up culture is required for ongoing pregnancies. Ship specimens overnight in an insulated, shatterproof container
Transport Temperature
All other specimens: Room temperature
Direct tissue only: Frozen
Direct tissue only: Frozen
Specimen Stability
Room temperature: 48 hours
Refrigerated: 7 days
Refrigerated: 7 days
Methodology
Sequencing • CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Setup Schedule
Set up: Varies; Report available: 18 days
Reference Range
See Laboratory Report
Clinical Significance
Individuals who are clinically suspected or diagnosed with CCHS
