AmPath Central Reference Laboratory:

Door No. 1-100/1/CCH

Nallagandla, Serilingampally
Hyderabad – 500019
T:040 6719 9977 | www.ampath.com Certificate No.MC-2751
NABL ACCREDITED

PATIENT INFORMATION REFERRED BY SPECIMEN INFORMATION

Mrs. USHA SHARMA . Dr. Apollo Clinic SAMPLE TYPE : Peripheral Blood
ORDER REQ. NO: OREQ-LAB-21-2607742
Sanjeevani Health & Lifestyle Pvt. Ltd
AGE : 33Y LAB ORDER. NO : 2114466420
GENDER : Female Lab MR #: 5084790 COLLECTED ON : 25-Aug-2021 00:00
PRIORITY : Routine RECEIVED ON : 26-Aug-2021 14:38
OP / IP / DG # : REPORT : Completed
STATUS

MOLECULAR DIAGNOSTICS
Test Name (Methodology) Result UOM

MTHFR - Methylene tetra hydro folate Not Detected

Reductase (C677T) Mutation Detection
Test Observations:
Comments:

Suggest correlation with results of assays of thrombophilia profile assays along with mutation analysis in other hypercoagulability related genes.

MTHFR (C677T) Mutation Analysis:

The MTHFR mutation is one of the genetic risk factors for thrombosis. Indications for MTHFR testing as part of the screening for thrombophilia
include: venous thromboembolism (especially if in an unusual site), deep vein thrombosis during pregnancy, venous thromboembolism while on oral
contraceptive, fetal death after 10 weeks gestation, fetal growth restriction and/or preclampsia, and/or family history of stroke, pulmonary embolus,
deep vein thrombosis in first degree relatives under age 50.

Clinical Utility:
The MTHFR mutation assay is clinically indicated for the evaluation of:·

Patients with early onset or significant family histories of atherosclerotic vascular disease - coronary artery disease, cerebrovascular
disease, or peripheral vascular disease.
Patients with clinically confirmed venous thromboembolism, especially those with recurring episodes or those with a strong family history.
Patients with known or suspected hyperhomocysteinemia.
Family members of individuals with hyperhomocysteinemia or MTHFR gene mutations.
Patients with ambiguous or variable homocysteine levels.
At the present time, this test should not be used to screen asymptomatic individuals for predisposition to vascular disease.

Methodology:
Direct detection (by PCR) of a common thermolabile variant of the MTHFR gene at nucleotide 677. The mutation in the gene predisposes to
increased homocysteine levels and vascular disease.

The presence of the mutation at nucleotide 677 of the MTHFR gene is directly determined by PCR amplification of peripheral blood leukocyte DNA
followed by digestion with a restriction enzyme. The mutant and wild type alleles are easily distinguished on a size-separating gel.

Dr. Suresh Kumar Subramanian Ph.D Dr. Anurag Gupta MD,FCCG,PGDHHM

Molecular Biologist Consultant Cytogenetics & Pathology
28-Aug-2021 19:44 28-Aug-2021 19:42
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Generated On 28-Aug-2021 19:45:03 594.8078 This is an electronically authenticated laboratory report. Page 1 of 1