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Phenylketonuria (PKU) Gene Sequencing
Test Code16152
CPT Codes
81406<br />
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
3 mL whole blood • 10 mL amniotic fluid
Other Acceptable Specimens
Whole blood collected in ACD (yellow-top), sodium heparin (green-top), lithium heparin (green-top) or EDTA (royal blue-top tube • Cultured cells from amniotic fluid submitted in T-25 flask • Cultured cells from CVS submitted in T-25 flask • 20 mL amniotic fluid submitted in leak-proof 15 mL conical tube
Instructions
Whole blood (preferred): Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze. For prenatal diagnosis parental results must be available. Contact the laboratory genetic counselor before submission.
Amniotic fluid (acceptable): (20 mL) normal collection procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze.
Amniotic culture (acceptable): Sterile T25 flask, filled with culture medium. Specimen stability is crucial. Store and ship room temperature. Do not refrigerate or freeze.
Dissected chorionic villi (CVS) biopsy (acceptable): 10-20 mg dissected CVS collected in a sterile tube filled with sterile culture medium. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze.
Amniotic fluid (acceptable): (20 mL) normal collection procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze.
Amniotic culture (acceptable): Sterile T25 flask, filled with culture medium. Specimen stability is crucial. Store and ship room temperature. Do not refrigerate or freeze.
Dissected chorionic villi (CVS) biopsy (acceptable): 10-20 mg dissected CVS collected in a sterile tube filled with sterile culture medium. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze.
Transport Temperature
Room temperature
Specimen Stability
Whole blood
Room temperature: 14 days
Refrigerated: 14 days
Frozen: Unacceptable
Cultured cells or amniotic fluid
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable
Room temperature: 14 days
Refrigerated: 14 days
Frozen: Unacceptable
Cultured cells or amniotic fluid
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable
Methodology
Next Generation Sequencing
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
A.M. Sets up 1 day a week.
Report Available
Reports in 29 days.
Limitations
This test will identify greater than 99% of mutations. Large rearrangements (deletions/insertions) are rare and not detectable by this test method. If no mutation is found by the testing procedure, it does not mean that the risk of carrying or developing PKU is not present. It simply means that this risk is significantly reduced.
Clinical Significance
1. To identify disease-causing variants in individuals affected with PKU.
2. To identify carriers in high risk ethnic groups or people with a positive family history.
3. Prenatal diagnosis of PKU.
2. To identify carriers in high risk ethnic groups or people with a positive family history.
3. Prenatal diagnosis of PKU.
