This test detects the 5T variant at the CFTR exon 9 splice site, which has been implicated in congenital bilateral absence of the vas deferens. The mutation can also affect the phenotype of some mild CF mutations.
If a mutation is detected it is recommended that the patient seek genetic counseling.
Note: This test was developed and its performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Synonyms
PCR
CF Poly T
Sample Type
EDTA whole blood, Tissue culture CVS
Collect
Lavender top, Blue (citrate) and Yellow (ACD) tops acceptable
Amount to Collect
3 mL blood
Preferred Volume
3 mL blood
Minimum Volume
0.5 mL blood
Remarks
If collecting in citrate, check the expiration date on the label of the blue top vacutainer before drawing the patient
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Unacceptable Conditions
Samples collected in outdated blue top vacutainer.
Test Code
POLT
Test Group
Cystic Fibrosis
Performing Lab
Medical Genomics - Molecular Diagnostics
Specimen Preparation
Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.
Preferred Volume
3 mL blood
Minimum Volume
0.5 mL blood
Unacceptable Conditions
Samples collected in outdated blue top vacutainer.
Reference Interval
5T allele not detected
Additional Information
This test detects the 5T variant at the CFTR exon 9 splice site, which has been implicated in congenital bilateral absence of the vas deferens. The mutation can also affect the phenotype of some mild CF mutations.
If a mutation is detected it is recommended that the patient seek genetic counseling.
Note: This test was developed and its performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.
CPT Codes
81224
LDT or Modified FDA
Yes
LOINC Codes
21654-9
Available Stat
No
Test Code
POLT
Test Group
Cystic Fibrosis
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run 1x per week, Monday-Friday, day shift only
Methodology
PCR and allele-specific probes
Remarks
If collecting in citrate, check the expiration date on the label of the blue top vacutainer before drawing the patient
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Collect
Lavender top, Blue (citrate) and Yellow (ACD) tops acceptable
Amount to Collect
3 mL blood
Sample Type
EDTA whole blood, Tissue culture CVS
Preferred Volume
3 mL blood
Minimum Volume
0.5 mL blood
Unacceptable Conditions
Samples collected in outdated blue top vacutainer.
Specimen Preparation
Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.
Reference Interval
5T allele not detected
Synonyms
PCR
CF Poly T
Reported
7-10 days
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Additional Information
This test detects the 5T variant at the CFTR exon 9 splice site, which has been implicated in congenital bilateral absence of the vas deferens. The mutation can also affect the phenotype of some mild CF mutations.
If a mutation is detected it is recommended that the patient seek genetic counseling.
Note: This test was developed and its performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.
CPT Codes
81224
LDT or Modified FDA
Yes
LOINC Codes
21654-9
Ordering
Available Stat
No
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run 1x per week, Monday-Friday, day shift only
Methodology
PCR and allele-specific probes
Reported
7-10 days
Additional Information
This test detects the 5T variant at the CFTR exon 9 splice site, which has been implicated in congenital bilateral absence of the vas deferens. The mutation can also affect the phenotype of some mild CF mutations.
If a mutation is detected it is recommended that the patient seek genetic counseling.
Note: This test was developed and its performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Synonyms
PCR
CF Poly T
Collection
Sample Type
EDTA whole blood, Tissue culture CVS
Collect
Lavender top, Blue (citrate) and Yellow (ACD) tops acceptable
Amount to Collect
3 mL blood
Preferred Volume
3 mL blood
Minimum Volume
0.5 mL blood
Remarks
If collecting in citrate, check the expiration date on the label of the blue top vacutainer before drawing the patient
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Unacceptable Conditions
Samples collected in outdated blue top vacutainer.
Processing
Test Code
POLT
Test Group
Cystic Fibrosis
Performing Lab
Medical Genomics - Molecular Diagnostics
Specimen Preparation
Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.
Preferred Volume
3 mL blood
Minimum Volume
0.5 mL blood
Unacceptable Conditions
Samples collected in outdated blue top vacutainer.
Result Interpretation
Reference Interval
5T allele not detected
Additional Information
This test detects the 5T variant at the CFTR exon 9 splice site, which has been implicated in congenital bilateral absence of the vas deferens. The mutation can also affect the phenotype of some mild CF mutations.
If a mutation is detected it is recommended that the patient seek genetic counseling.
Note: This test was developed and its performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.
Administrative
CPT Codes
81224
LDT or Modified FDA
Yes
LOINC Codes
21654-9
Complete View
Available Stat
No
Test Code
POLT
Test Group
Cystic Fibrosis
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run 1x per week, Monday-Friday, day shift only
Methodology
PCR and allele-specific probes
Remarks
If collecting in citrate, check the expiration date on the label of the blue top vacutainer before drawing the patient
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Collect
Lavender top, Blue (citrate) and Yellow (ACD) tops acceptable
Amount to Collect
3 mL blood
Sample Type
EDTA whole blood, Tissue culture CVS
Preferred Volume
3 mL blood
Minimum Volume
0.5 mL blood
Unacceptable Conditions
Samples collected in outdated blue top vacutainer.
Specimen Preparation
Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.
Reference Interval
5T allele not detected
Synonyms
PCR
CF Poly T
Reported
7-10 days
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Additional Information
This test detects the 5T variant at the CFTR exon 9 splice site, which has been implicated in congenital bilateral absence of the vas deferens. The mutation can also affect the phenotype of some mild CF mutations.
If a mutation is detected it is recommended that the patient seek genetic counseling.
Note: This test was developed and its performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.
