GFER Gene Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay NGS Genetic Test
Short Name: GFER Gene NGS Test
Also known as: GFER Gene Mutation Analysis, GFER Gene Sequencing, Mitochondrial Progressive Myopathy GFER Gene Test
GFER Gene Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are normally available within 3 to 4 weeks after the sample is received. Extra time may be needed for variant confirmation, family testing, or repeat analysis.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic variants in the GFER gene by targeted Next-Generation Sequencing. It helps to differentiate GFER-related mitochondrial myopathy from other neuromuscular or mitochondrial disorders and guides treatment, surveillance, and genetic counselling.
- Test Code
- 4385
- ICD Code
- G71.3
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are normally available within 3 to 4 weeks after the sample is received. Extra time may be needed for variant confirmation, family testing, or repeat analysis.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation or fasting is required. A signed test requisition form and informed consent are necessary. Genetic counselling is recommended before the test to discuss the purpose, risks, and limitations.
Method: Venipuncture / Finger-prick blood on FTA card
Laboratory Analysis
A trained phlebotomist will collect a small amount of blood from the arm vein. For FTA card testing, one drop of blood is placed on the marked circle and allowed to dry. The procedure is quick and usually painless.
Report Delivery
You can resume routine activities immediately. The laboratory will process the sample and share the clinical report within 3 to 4 weeks.
Timeline: Reports are normally available within 3 to 4 weeks after the sample is received. Extra time may be needed for variant confirmation, family testing, or repeat analysis.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the GFER gene by targeted Next-Generation Sequencing. It helps to differentiate GFER-related mitochondrial myopathy from other neuromuscular or mitochondrial disorders and guides treatment, surveillance, and genetic counselling.
How to Prepare
- Submit the signed test requisition form with unique patient identifier.
- For blood collection, use an EDTA vacutainer and gently invert the tube 8-10 times.
- If using an FTA card, apply one drop of blood to the marked circle and air-dry completely before packing.
- Store the EDTA blood at 2-8°C if dispatch is delayed.
- Do not freeze whole blood. Freeze only extracted DNA if required.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"In individuals presenting with congenital cataract, hearing loss, and muscle weakness, a GFER gene analysis should be considered early to avoid unnecessary investigations. Confirming the diagnosis helps in reproductive counselling and anticipatory management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted, haemolysed, or frozen whole blood sample
- Sample received in a non-EDTA tube
- Insufficient sample quantity
- Leaking or broken sample container
- Missing label or test requisition form
- FTA card that is wet, mouldy, or not properly dried
Understanding Your Results
Positive / Pathogenic variant identified
Confirms GFER-related mitochondrial myopathy. Genetic counselling for the family, surveillance, and cascade testing of at-risk relatives are recommended.
Negative / No pathogenic variant
Reduces the likelihood of GFER-related disease. A broader mitochondrial gene panel may be considered if the clinical suspicion remains high.
Variant of Uncertain Significance (VUS)
Insufficient evidence to confirm or exclude disease. Family segregation studies and functional analysis may be suggested.
Consult a neurologist or clinical geneticist if a pathogenic variant is detected, if a variant of uncertain significance is reported, or if symptoms persist despite a negative result. Genetic counselling is essential before and after testing.
Risks & Considerations
- ●Minor pain or bruising at the venipuncture site
- ●Light-headedness during blood collection
- ●Very small risk of infection at the needle site
Interfering Factors
- ●Inadequate quantity or poor quality of extracted DNA
- ●Sample haemolysis or clotting
- ●Contamination during DNA extraction
- ●Incomplete clinical information leading to misinterpretation
Compare With Similar Tests
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| Comparison | GFER Gene Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay NGS Genetic Test |
Frequently Asked Questions
What is GFER gene myopathy?
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