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

Useful For

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

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 and charged separately. If chorionic villus specimen is received, fibroblast culture for genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added. A maternal whole blood sample is required to perform this test.

 

The following algorithms are available in Special Instructions:

-Hemophilia Carrier Testing Algorithm

-Hemophilia Testing Algorithm

Reporting Name

HA F8 Intron 1 Inversion, AF or CVS

Specimen Type

Varies


Necessary Information


Hemophilia A Patient Information is required, see Special Instructions. 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


Advise Express Mail or equivalent if not on courier service

 

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

 

Due to the complexity of prenatal testing, consultation with the laboratory is required for all prenatal testing. Prenatal specimens can be sent Monday through Thursday and must be received by 5 p.m. CST on Friday in order to be processed appropriately. All prenatal specimens must be accompanied by a maternal blood specimen. Order MATCC / Maternal Cell Contamination, Molecular Analysis on the maternal specimen.

 

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 (T329).

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.

 

Specimen Type: Chorionic villi

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 (T095).

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

 

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: There will be no culture charge.


Specimen Minimum Volume

Amniotic fluid: 10 mL
Chorionic villi: 5 mg

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reference Values

Not applicable

Day(s) Performed

Monday through Friday

Report Available

28 to 35 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

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

Method Name

Polymerase Chain Reaction (PCR)

Forms

1. 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 in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

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