A clinical questionnaire should be submitted with all specimens. Contact CMBP genetics services at 800-345-4363 to coordinate testing.
Expected Turnaround Time
16 - 28 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Whole blood, saliva collected in an Oragene Dx collection kit
7 mL whole blood, 2 mL saliva
3 mL whole blood, 0.5 mL saliva
Lavender-top (EDTA) tube or yellow-top (ACD) tube
Blood is collected by routine phlebotomy. Saliva is collected by spitting into the provided container until it reaches the fill line.
Maintain specimen at room temperature.
Causes for Rejection
Frozen whole blood, serum or marrow; leaking tube; clotted blood or marrow; grossly hemolyzed specimen; incorrect anticoagulant
Once a mutation is identified in an index patient, family members can be tested for the presence of that specific mutation (single-amplicon testing by sequencing or deletion/duplication testing by multiplex ligation-dependent probe amplification [MLPA]). Please note, if additional amplicons are required for family testing by sequencing, the patient will be charged for each additional amplicon.
Sequencing does not detect large deletions and duplications or other rearrangements; it may be affected by allele dropout if a rare polymorphism is present in the primer binding site.
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