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HelpTest 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)
3. If not ordering electronically, complete, print, and send a Coagulation Test Request (T753) with the specimen.
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
Special Instructions
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 NGSSpecimen Type
VariesSpecimen 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 | In Process |
| 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 |