Thrombosis Risk Assessment
ONLY MultiGEN offers these comprehensive advantages:
- Cost-Effectiveness
- All 4 Clotting Factor Mutations in ONE Test
- Verifiable Accuracy
- ‘Gold Standard’ Multiplex DNA Sequencing
Indications* for the MultiGEN Thrombophilia Panel Test:
- DVT and Pulmonary Embolism
- Family History of Thrombotic Disease
- MI in female smokers
- Repeated pregnancy loss
- Pre-eclampsia
- Placental Abruption
- In-utero Fetal Growth Retardation
*As recommended by the American College of Medical Genetics \
Includes:
- MD interpreted report
- Mutation risk analysis
- Reported same day lab receives sample
CPT Codes:
- 83891x1
- 83900x1
- 83901x2
- 83904x4
- 83912x1
Sample Collection: Buccal Swab (collection kit supplied)
Ordering: Download a request form
Licensure: MultiGEN Diagnostics Inc. is a CLIA licensed laboratory
Mutations that are identified by MultiGEN Multiplex Sequencing:
Uppercase letters represent the normal genetic code for each of the 4 genes (Letters A,C, G and T). The lower case letters represent the mutations detected by the MultiGEN Thrombophilia Panel Test (letters a, g and t).
Typical Result
- Verifiable accuracy (black arrows show the sites of the mutations)
- Permanent record
- MD interpretation
FACT: 1 in 12 women on “The Pill” or HRT has genetic mutations for clotting disorders with up to 35 times increased risk of DVT.
The Role of Genetic Testing in Reducing Fetal Loss and Infertility:
What is the degree of risk with these genetic mutations?
The MultiGEN test Panel identifies approximately 15% of the causes of fetal loss and infertility due to genetically determined coagulation abnormalities.
How common is thrombophilia?
Approximately one third of otherwise totally normal women have one or more mutations of genes that involve blood coagulation (Factor V Leiden, Factor 2 Prothrombin, and 2 mutations involving Mthfr)
Recommended Testing Population?
All women who are pregnant or contemplating pregnancy, experiencing infertility or unexplained fetal loss, and Relatives and children of women who test positive.
What does the MultiGEN Thrombophilia Genetic Test Panel detect?
Any or all of four separate mutations in three key genes involved in blood coagulation. The MultiGEN test Panel also determines if there are just one or two copies of the mutated genes. The normal state without mutations is also confidently identified.
If the Thrombophilia Panel is positive, what courses of action are there?
Various forms of anti-coagulation and other therapies (folic acid etc) depending on the mutation(s) detected. Conservative high-risk pregnancy management.
References: Goodman C.S. et al Which Thrombophilic Gene Mutations are Risk Factors for Recurrent Pregnancy Loss? Am J of Reproductive Immunology 56 (2006) 230-236
What is the degree of risk for women on "the pill" or HRT developing a clotting disorder?
Healthy women |
not on Pill/HRT
|
baseline risk
|
|
Healthy women
|
on Pill/HRT
|
5 times risk
|
|
Women with Factor V Leiden mutation (one copy)
|
on Pill/HRT
|
35 times risk
|
|
Women with Factor V Leiden mutation (two copies)
|
on Pill/HRT
|
400 times risk (Rare)
|
|
Women with Prothrombin mutation (one copy)
|
on Pill/HRT
|
16 times risk
|
What does the MultiGEN Thrombophilia Genetic Test Panel Detect?
Four separate mutations in three key genes controlling blood coagulation. The MutliGEN test panel detects whether there are just one or two copies of the mutated genes. The normal state without mutations is also confidently confirmed.
Recommended testing population?
All women being considered for the Pill or HRT or already on them, women who have already developed one of the complications, and relatives and children of women who test positive.
If the Thrombophilia Test is positive what courses of action are there?
Various forms of anti-coagulation, and prophylaxis against DVTs (exercise, foot elevation, compression stockings, weight reduction)
References:
- Vlieg A.V.H. et al The venous thrombotic risk of oral contraceptives, effects of
oestrogen dose and progestogen type: results of the MEGA case-control study.
BMJ 2009;339;b2921
- Rosendaal F.R. et al Female Hormones and Thrombosis Arteioscler Thromb Vasc Biol
2002;22;201-210
- Bauer K.A. Hormone Replacement Therapy and the Factor V LeidenMutation
Arteioscler Thromb Vasc Biol 2002;22;879-880
- Kemmeren J.M. Third generation oral contraceptives and risk of venous thrombosis:
meta-analysis BMJ 2001;323;1-9