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Test Code F8INP Hemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, Prenatal

Useful For

Prenatal testing for hemophilia A when a mutation has not been identified in the family.

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 for genetic testing will be added and charged separately. If chorionic villus specimen is received, fibroblast culture for genetic testing 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 Int 1/22 Inversion, AF or CVS

Specimen Type

Varies


Additional Testing Requirements


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.



Shipping Instructions


Advise Express Mail or equivalent if not on courier service



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


Results will be reported and also 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 mL 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 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
F8INP HA F8 Int 1/22 Inversion, AF or CVS 82343-5

 

Result ID Test Result Name Result LOINC Value
35161 HA F8 Int 1/22 Reason for Referral 42349-1
35162 HA F8 Int 1/22 Inversion, AF or CVS 82343-5
35163 F8INP Interpretation 69047-9
35164 HA F8 Intron 1/22 Reviewed By 18771-6

Specimen Minimum Volume

Amniotic fluid: 10 mL
Chorionic Villi: 5 mg

Method Name

Polymerase Chain Reaction (PCR) or Inverse Shifting-Polymerase Chain Reaction (IS-PCR)