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Test ID F7NGS Factor VII Deficiency, F7 Gene, Next-Generation Sequencing, Varies


Advisory Information


Genetic testing for factor VII deficiency should only be considered after coagulation screening is performed and if factor VII activity is less than 65% of normal (Note: reference range may vary depending on the locally established reference range).



Shipping Instructions


Ambient and refrigerate specimens must arrive within 7 days (168 hours of draw), and frozen specimens must arrive within 14 days (336 hours) of draw.

 

Collect and package specimens as close to shipping time as possible.



Necessary Information


Rare Coagulation Disorder 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


Submit only 1 of the following specimens:

 

Specimen Type: Peripheral blood

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD) or green top (sodium citrate)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Specimen Stability: Ambient (preferred)/Refrigerated/Frozen

 

Specimen Type: Extracted DNA

Container/Tube: 1.5- to 2-mL tube

Specimen Volume: Entire specimen

Collection Instructions:

1. Label specimen as extracted DNA and source of specimen.

2. Provide indication of volume and concentration of the DNA.

Specimen Stability: Frozen (preferred)/Refrigerated/Ambient


Forms

1. Rare Coagulation Disorder Patient Information (T824) is required, see Special Instructions. Fax the completed form to 507-284-1759.

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 in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

Useful For

Genetic confirmation of a factor VII deficiency diagnosis with the identification of a known or suspected pathogenic alteration in the F7 gene

 

Carrier testing for close family members of an individual with a factor VII deficiency diagnosis

 

This test is not useful for prenatal diagnosis.

Genetics Test Information

This test detects pathogenic alterations in the F7 gene to delineate the underlying molecular defect in a patient with a laboratory diagnosis of Factor VII deficiency (F7D), a rare bleeding disorder.

 

The gene target for this test is:

Gene name (transcript): F7 (GRCh37 [hg19] NM_000131)

Chromosomal location: 13q34

Testing Algorithm

The clinical workup for factor VII deficiency (F7D) begins with coagulation testing consisting of coagulation factor VII assay (see F_7 / Coagulation Factor VII Activity Assay, Plasma).

 

Genetic testing for F7D is indicated if:

-Factor VII activity is reduced (less than 65% of normal)

-Acquired causes of FVII deficiency have been excluded

Method Name

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) Followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing when appropriate

Reporting Name

F7 Gene, Full Gene NGS

Specimen Type

Varies

Specimen Minimum Volume

Blood: 1 mL
Extracted DNA: 100 mcL at 50 ng/mcl concentration

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred) 7 days
  Frozen  14 days
  Refrigerated  7 days

Reference Values

An interpretative report will be provided

Day(s) and Time(s) Performed

Performed weekly; Varies

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 U.S. Food and Drug Administration.

CPT Code Information

81479

LOINC Code Information

Test ID Test Order Name Order LOINC Value
F7NGS F7 Gene, Full Gene NGS 21670-5

 

Result ID Test Result Name Result LOINC Value
113035 F7NGS Result 50397-9
113029 Alterations Detected 82939-0
113028 Interpretation 69047-9
113030 Additional Information 48767-8
113031 Method 85069-3
113032 Disclaimer 62364-5
113033 Panel Gene List 21671-3
113034 Reviewed By 18771-6

NY State Approved

Yes