Available Stat

No

Performing Lab

Medical Genomics - Molecular Diagnostics

Performed

Run 2x per week, Monday - Friday day shift only

Methodology

Multiplex PCR, RDB

Reported

7-10 days

Additional Information

An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.

A total of 34 mutations and the F508C polymorphism are included in this assay, which detects CF mutations in 88% of Caucasians, 94% of Ashkenazi Jewish decent, 72% of Hispanics and 65% of African Americans.

The UCSF CF panel encompasses all the ACMG recommended 23 mutations and 11 additional ones. Compared to the California CF newborn screen, the UCSF panel overlaps with 15 ACMG mutations and 2 common Hispanic mutations. A newborn who is suspected of having CF and tests negative or heterozygous by the State program might benefit from additional mutations screened for at UCSF.

Click here for comparison of UCSF, California State panels and ACMG recommended mutations

A reflex test for the 5/7/9T polymorphism is recommended to evaluate the association of CBAVD with CF, if the patient is diagnosed with the R117H mutation.

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

5/7/9T Polymorphism test is performed if sample shows R117H mutation

Synonyms

  • CF mutations
  • CF polymorphisms
  • F508 deletion
  • Delta F508 deletion
  • Phenylalanine 508 deletion
  • R553X mutation

Sample Type

Whole blood, Tissue culture, Amniotic fluid, Chorionic villi

Collect

Lavender top, Blue (citrate) and Yellow (ACD) tops acceptable

Amount to Collect

See Preferred Volume

Preferred Volume

Whole blood: 3 mL
Cell culture: 2 T25 flasks, 80% confluent
Amniotic fluid: 10 mL
Chorionic villi: 10 mg (2-3 mm diameter)

Minimum Volume

0.5 mL for whole 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.

Stability (from collection to initiation)

Whole blood is stable refrigerated for 1 week.

Unacceptable Conditions

Insufficient sample provided. Samples collected in outdated blue top vacutainer.

Test Code

MCFM

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

Whole blood: 3 mL
Cell culture: 2 T25 flasks, 80% confluent
Amniotic fluid: 10 mL
Chorionic villi: 10 mg (2-3 mm diameter)

Minimum Volume

0.5 mL for whole blood

Unacceptable Conditions

Insufficient sample provided. Samples collected in outdated blue top vacutainer.

Stability (from collection to initiation)

Whole blood is stable refrigerated for 1 week.

Reference Interval

No mutation detected

Additional Information

An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.

A total of 34 mutations and the F508C polymorphism are included in this assay, which detects CF mutations in 88% of Caucasians, 94% of Ashkenazi Jewish decent, 72% of Hispanics and 65% of African Americans.

The UCSF CF panel encompasses all the ACMG recommended 23 mutations and 11 additional ones. Compared to the California CF newborn screen, the UCSF panel overlaps with 15 ACMG mutations and 2 common Hispanic mutations. A newborn who is suspected of having CF and tests negative or heterozygous by the State program might benefit from additional mutations screened for at UCSF.

Click here for comparison of UCSF, California State panels and ACMG recommended mutations

A reflex test for the 5/7/9T polymorphism is recommended to evaluate the association of CBAVD with CF, if the patient is diagnosed with the R117H mutation.

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

81220

LDT or Modified FDA

Yes

LOINC Codes

21654-9

Available Stat

No

Test Code

MCFM

Test Group

Cystic Fibrosis

Performing Lab

Medical Genomics - Molecular Diagnostics

Performed

Run 2x per week, Monday - Friday day shift only

Methodology

Multiplex PCR, RDB

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

See Preferred Volume

Sample Type

Whole blood, Tissue culture, Amniotic fluid, Chorionic villi

Preferred Volume

Whole blood: 3 mL
Cell culture: 2 T25 flasks, 80% confluent
Amniotic fluid: 10 mL
Chorionic villi: 10 mg (2-3 mm diameter)

Minimum Volume

0.5 mL for whole blood

Unacceptable Conditions

Insufficient sample provided. Samples collected in outdated blue top vacutainer.

Specimen Preparation

Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.

Reference Interval

No mutation detected

Synonyms

  • CF mutations
  • CF polymorphisms
  • F508 deletion
  • Delta F508 deletion
  • Phenylalanine 508 deletion
  • R553X mutation

Stability (from collection to initiation)

Whole blood is stable refrigerated for 1 week.

Reported

7-10 days

Reflex Testing

5/7/9T Polymorphism test is performed if sample shows R117H mutation

Additional Information

An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.

A total of 34 mutations and the F508C polymorphism are included in this assay, which detects CF mutations in 88% of Caucasians, 94% of Ashkenazi Jewish decent, 72% of Hispanics and 65% of African Americans.

The UCSF CF panel encompasses all the ACMG recommended 23 mutations and 11 additional ones. Compared to the California CF newborn screen, the UCSF panel overlaps with 15 ACMG mutations and 2 common Hispanic mutations. A newborn who is suspected of having CF and tests negative or heterozygous by the State program might benefit from additional mutations screened for at UCSF.

Click here for comparison of UCSF, California State panels and ACMG recommended mutations

A reflex test for the 5/7/9T polymorphism is recommended to evaluate the association of CBAVD with CF, if the patient is diagnosed with the R117H mutation.

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

81220

LDT or Modified FDA

Yes

LOINC Codes

21654-9
Ordering

Available Stat

No

Performing Lab

Medical Genomics - Molecular Diagnostics

Performed

Run 2x per week, Monday - Friday day shift only

Methodology

Multiplex PCR, RDB

Reported

7-10 days

Additional Information

An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.

A total of 34 mutations and the F508C polymorphism are included in this assay, which detects CF mutations in 88% of Caucasians, 94% of Ashkenazi Jewish decent, 72% of Hispanics and 65% of African Americans.

The UCSF CF panel encompasses all the ACMG recommended 23 mutations and 11 additional ones. Compared to the California CF newborn screen, the UCSF panel overlaps with 15 ACMG mutations and 2 common Hispanic mutations. A newborn who is suspected of having CF and tests negative or heterozygous by the State program might benefit from additional mutations screened for at UCSF.

Click here for comparison of UCSF, California State panels and ACMG recommended mutations

A reflex test for the 5/7/9T polymorphism is recommended to evaluate the association of CBAVD with CF, if the patient is diagnosed with the R117H mutation.

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

5/7/9T Polymorphism test is performed if sample shows R117H mutation

Synonyms

  • CF mutations
  • CF polymorphisms
  • F508 deletion
  • Delta F508 deletion
  • Phenylalanine 508 deletion
  • R553X mutation
Collection

Sample Type

Whole blood, Tissue culture, Amniotic fluid, Chorionic villi

Collect

Lavender top, Blue (citrate) and Yellow (ACD) tops acceptable

Amount to Collect

See Preferred Volume

Preferred Volume

Whole blood: 3 mL
Cell culture: 2 T25 flasks, 80% confluent
Amniotic fluid: 10 mL
Chorionic villi: 10 mg (2-3 mm diameter)

Minimum Volume

0.5 mL for whole 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.

Stability (from collection to initiation)

Whole blood is stable refrigerated for 1 week.

Unacceptable Conditions

Insufficient sample provided. Samples collected in outdated blue top vacutainer.
Processing

Test Code

MCFM

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

Whole blood: 3 mL
Cell culture: 2 T25 flasks, 80% confluent
Amniotic fluid: 10 mL
Chorionic villi: 10 mg (2-3 mm diameter)

Minimum Volume

0.5 mL for whole blood

Unacceptable Conditions

Insufficient sample provided. Samples collected in outdated blue top vacutainer.

Stability (from collection to initiation)

Whole blood is stable refrigerated for 1 week.
Result Interpretation

Reference Interval

No mutation detected

Additional Information

An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.

A total of 34 mutations and the F508C polymorphism are included in this assay, which detects CF mutations in 88% of Caucasians, 94% of Ashkenazi Jewish decent, 72% of Hispanics and 65% of African Americans.

The UCSF CF panel encompasses all the ACMG recommended 23 mutations and 11 additional ones. Compared to the California CF newborn screen, the UCSF panel overlaps with 15 ACMG mutations and 2 common Hispanic mutations. A newborn who is suspected of having CF and tests negative or heterozygous by the State program might benefit from additional mutations screened for at UCSF.

Click here for comparison of UCSF, California State panels and ACMG recommended mutations

A reflex test for the 5/7/9T polymorphism is recommended to evaluate the association of CBAVD with CF, if the patient is diagnosed with the R117H mutation.

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

81220

LDT or Modified FDA

Yes

LOINC Codes

21654-9
Complete View

Available Stat

No

Test Code

MCFM

Test Group

Cystic Fibrosis

Performing Lab

Medical Genomics - Molecular Diagnostics

Performed

Run 2x per week, Monday - Friday day shift only

Methodology

Multiplex PCR, RDB

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

See Preferred Volume

Sample Type

Whole blood, Tissue culture, Amniotic fluid, Chorionic villi

Preferred Volume

Whole blood: 3 mL
Cell culture: 2 T25 flasks, 80% confluent
Amniotic fluid: 10 mL
Chorionic villi: 10 mg (2-3 mm diameter)

Minimum Volume

0.5 mL for whole blood

Unacceptable Conditions

Insufficient sample provided. Samples collected in outdated blue top vacutainer.

Specimen Preparation

Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.

Reference Interval

No mutation detected

Synonyms

  • CF mutations
  • CF polymorphisms
  • F508 deletion
  • Delta F508 deletion
  • Phenylalanine 508 deletion
  • R553X mutation

Stability (from collection to initiation)

Whole blood is stable refrigerated for 1 week.

Reported

7-10 days

Reflex Testing

5/7/9T Polymorphism test is performed if sample shows R117H mutation

Additional Information

An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.

A total of 34 mutations and the F508C polymorphism are included in this assay, which detects CF mutations in 88% of Caucasians, 94% of Ashkenazi Jewish decent, 72% of Hispanics and 65% of African Americans.

The UCSF CF panel encompasses all the ACMG recommended 23 mutations and 11 additional ones. Compared to the California CF newborn screen, the UCSF panel overlaps with 15 ACMG mutations and 2 common Hispanic mutations. A newborn who is suspected of having CF and tests negative or heterozygous by the State program might benefit from additional mutations screened for at UCSF.

Click here for comparison of UCSF, California State panels and ACMG recommended mutations

A reflex test for the 5/7/9T polymorphism is recommended to evaluate the association of CBAVD with CF, if the patient is diagnosed with the R117H mutation.

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

81220

LDT or Modified FDA

Yes

LOINC Codes

21654-9