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Test Code F81P Hemophilia A F8 Gene, Intron 1 Inversion Known Mutation Analysis, Prenatal

Useful For

Prenatal testing for hemophilia A when a F8 intron 1 inversion has been identified in a family member

Disease States

  • Hemophilia A

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
CULAF Amniotic Fluid Culture/Genetic Test Yes No
CULFB Fibroblast Culture for Genetic Test Yes No
MATCC Maternal Cell Contamination, B Yes No

Testing Algorithm

If amniotic fluid is received, amniotic fluid culture/genetic test will be added at an additional charge.

If chorionic villus specimen is received, fibroblast culture for genetic test will be added at an additional charge.

 

For any prenatal specimen that is received, maternal cell contamination studies will be added. A maternal whole blood specimen is required to perform this test.

 

The following algorithms are available:

-Hemophilia Carrier Testing Algorithm

-Hemophilia Testing Algorithm

Reporting Name

HA F8 Intron 1 Inversion, AF or CVS

Specimen Type

Varies


Additional Testing Requirements


Due to its complexity, consultation with the laboratory is required for all prenatal testing; call 800-533-1710 to speak to a genetic counselor. 

 

All prenatal specimens must be accompanied by a maternal blood specimen. Order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.



Shipping Instructions


Advise Express Mail or equivalent if not on courier service.



Necessary Information


Hemophilia A Patient Information (T712) is required. Testing may proceed without the patient information, however, the information aids in providing a more thorough interpretation. Ordering providers are strongly encouraged to fill out the form and send with the specimen.



Specimen Required


Results will be reported and telephoned or faxed, if requested.

 

Submit only 1 of the following specimens:

 

Specimen Type: Amniotic fluid

Container/Tube: Amniotic fluid container

Specimen Volume: 5-10 mL

Collection Instructions:

1. Optimal timing for specimen collection is during 14 to 18 weeks of gestation, but specimens collected at other weeks of gestation are also accepted.

2. Discard the first 2 mL of amniotic fluid. If the culture will be performed in conjunction with chromosome analysis and alpha-fetoprotein, a total of approximately 25 to 30 mL will be needed for the combined studies.

Specimen Stability Information: Ambient (preferred) <24 hours/Refrigerated

Additional Information:

1. Place the tubes in a Styrofoam container.

2. Fill remaining space with packing material.

3. Unavoidably, about 1% to 2% of mailed-in specimens are not viable.

4. Bloody specimens are undesirable.

5. If the specimen does not grow in culture, you will be notified within 7 days of receipt.

6. A separate culture charge will be assessed under CULAF / Culture for Genetic Testing, Amniotic Fluid.

7. All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.

 

Specimen Type: Chorionic villi

Supplies: CVS Media (RPMI) and Small Dish (T095)

Container/Tube: 15-mL tube containing 15 mL of transport media

Specimen Volume: 20-30 mg

Collection Instructions:

1. Collect specimen by the transabdominal or transcervical method.

2. Transfer the chorionic villi specimen to a Petri dish containing transport medium.

3. Using a stereomicroscope and sterile forceps, assess the quality and quantity of the villi and remove any blood clots and maternal decidua.

Specimen Stability Information: Refrigerated (preferred) <24 hours/Ambient

Additional Information:

1. A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.

2. All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.

 

Specimen Type: Confluent cultured cells

Container/Tube: T-25 flask

Specimen Volume: 2 Flasks approximately 90% confluent

Collection Instructions: Submit confluent cultured cells from another laboratory.

Specimen Stability Information: Ambient (preferred) <24 hours/Refrigerated

Additional Information: All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.


Specimen Minimum Volume

Amniotic fluid: See Specimen Required
Chorionic villi: 5 mg

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Genetics Test Information

This test detects the intron 1 inversion in the F8 gene. The intron 1 inversion variant accounts for approximately 5% of variants associated with severe hemophilia A.

 

Intron 1 inversion known variant analysis on a prenatal specimen can only be performed when there is a known intron 1 inversion in the family.

Reference Values

An interpretive report will be provided.

Day(s) Performed

Monday through Friday

Report Available

28 to 35 days

Specimen Retention Time

Extracted DNA: Indefinitely, from New York State: 90 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81403

LOINC Code Information

Test ID Test Order Name Order LOINC Value
F81P HA F8 Intron 1 Inversion, AF or CVS 82342-7

 

Result ID Test Result Name Result LOINC Value
35138 HA F8 Int1 KM Reason for Referral 42349-1
35004 HA F8 Intron 1 Inversion, AF or CVS 82342-7
35005 F81P Interpretation 69047-9
35006 HA F8 Int1 KM Reviewed By 18771-6

Forms

1. Hemophilia A Patient Information (T712) is required

2. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

3. If not ordering electronically, complete, print, and send a Coagulation Test Request (T753) with the specimen.