CFTR Gene Analysis Full Gene Sequence
Label Mnemonic: CFTRSEQ
Epic Lab Code: LAB2970
Downtime Form: A-1a Miscellaneous Request
Commercial Mail-out Laboratory
5231 RCP
356-8593
Specimen(s):
Whole Blood
Collection Medium:
Pink top tube 6 mL (K2-EDTA)
Alternate Collection Media:
Lavender top tube 3 mL (EDTA) or Yellow top tube 8.5 mL (ACD solution A)
Minimum:
Preferred Minimum: 5 mL in pink top (EDTA) tube
Absolute Minimum: 2 mL in pink top (EDTA) tube

Dried blood spots are also acceptable.
Delivery Instructions:
Send whole blood at room temperature Monday - Thursday
Refrigerate Friday-Sunday for send out on Monday.
Turn Around Time:
5-13 days upon receipt at reference laboratory
Reference Range:
Negative
Comments:
Depending on results of initial testing, the reference laboratory performing this mailout test can initiate further reflex testing that will involve additional charges for the patient. Amplified testing may be reflexed if 508 FIRST is negative. Cystic Fibrosis Full Gene Sequence Analysis followed by the deletion/duplication test only if indicated. Please print, complete and submit the General Test Requisition from Ambry Genetics with the A-1a Miscellaneous Request.
Methodology:
DNA sequencing
CPT Code:
81223