A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
Phenylketonuria (PKU) Gene Sequencing
Test Code16152
CPT Codes
81406
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 or royal blue-top), ACD (yellow-top) or sodium or lithium heparin (green-top) tube
Minimum Volume
3 mL whole blood • 10 mL amniotic fluid
Other Acceptable Specimens
Cultured cells from amniotic fluid or cultured cells from CVS collected T-25 Flask • 20 mL amniotic fluid collected in leak-proof 15 mL conical tubes
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: Normal collection procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze.
Amniocyte culture: 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: 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: Normal collection procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze.
Amniocyte culture: 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: 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 (preferred)
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable
CVS or amniotic fluid
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable
CVS 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 the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Wed; Report available: 30 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.
Reference Range
See Laboratory Report
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.
Performing Laboratory
Quest Diagnostics Nichols Institute-San Juan Capistrano, CA |
33608 Ortega Highway |
San Juan Capistrano, CA 92675-2042 |