NEB Gene Nemaline myopathy type 2, autosomal recessive NGS Genetic Test
Short Name: NEB Gene NM Type 2 NGS Test
Also known as: NEB Gene NGS Test, Nemaline Myopathy Type 2 Genetic Test, NEB Nebulin Gene Sequencing Test, NEM2 Genetic Test, Autosomal Recessive Nemaline Myopathy DNA Test
NEB Gene Nemaline myopathy type 2, autosomal recessive NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Bioinformatic Analysis, Sanger Confirmation (if required) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Expedited processing may be available upon request for urgent clinical situations—please contact DNA Labs India for details.. 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 the NEB Gene Nemaline Myopathy Type 2 NGS Genetic Test is to detect pathogenic or likely pathogenic variants in the NEB gene that cause autosomal recessive nemaline myopathy type 2. This test is used to confirm a clinical or histopathological diagnosis of nemaline myopathy, determine carrier status in family members, facilitate accurate genetic counseling regarding recurrence risk and disease prognosis, guide management decisions related to respiratory function monitoring and orthopedic care, and support informed family planning including prenatal or preimplantation genetic testing.
- Test Code
- 1771
- CPT Code
- 81479
- ICD Code
- G71.2
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Expedited processing may be available upon request for urgent clinical situations—please contact DNA Labs India for details.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Bioinformatic Analysis, Sanger Confirmation (if required)
Sample Collection
A pre-test genetic counseling session is recommended to obtain detailed clinical history, construct a pedigree chart of affected family members, discuss the implications of testing, and obtain informed consent. No fasting is required. Maintain the sample at ambient room temperature during transport.
Method: Venipuncture (blood) or FTA card finger-prick
Laboratory Analysis
A peripheral venous blood sample (3–5 mL) is collected in an EDTA (lavender-top) tube using standard venipuncture technique. Alternatively, one drop of blood can be applied to an FTA card. If extracted DNA is available, it may be submitted directly. The collection procedure is similar to a routine blood draw with minimal discomfort.
Report Delivery
Label the sample accurately with patient details and transport to the laboratory at ambient room temperature within 48–72 hours. If transport is delayed, store the blood sample at 2–8°C. Results will be available within 3 to 4 weeks. A post-test genetic counseling session is provided to interpret the results, discuss implications, and plan next steps.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Expedited processing may be available upon request for urgent clinical situations—please contact DNA Labs India for details.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the NEB Gene Nemaline Myopathy Type 2 NGS Genetic Test is to detect pathogenic or likely pathogenic variants in the NEB gene that cause autosomal recessive nemaline myopathy type 2. This test is used to confirm a clinical or histopathological diagnosis of nemaline myopathy, determine carrier status in family members, facilitate accurate genetic counseling regarding recurrence risk and disease prognosis, guide management decisions related to respiratory function monitoring and orthopedic care, and support informed family planning including prenatal or preimplantation genetic testing.
How to Prepare
- Collect 3–5 mL of peripheral blood in an EDTA (lavender-top) vacutainer tube using standard aseptic venipuncture technique.
- Alternatively, apply one drop of blood to an FTA card and allow it to dry completely before placing in the provided protective envelope.
- If submitting extracted DNA, ensure a minimum concentration of 50 ng/µL in a volume of at least 20 µL with A260/A280 ratio of 1.7–2.0.
- Gently invert the EDTA tube 8–10 times immediately after collection to prevent clotting. Do not shake vigorously.
- Label the sample container with the patient's full name, date of birth, sample type, and date/time of collection.
- Complete the test requisition form including clinical history, family pedigree information, and informed consent documentation.
- Transport the sample to the laboratory at ambient room temperature (15–30°C) within 48–72 hours of collection.
- If same-day transport is not possible, store the sample at 2–8°C and transport within 7 days.
- Avoid exposing the sample to extreme temperatures, direct sunlight, or freezing conditions during transport.
- Free home sample collection is available across India through DNA Labs India for online bookings.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Nemaline myopathy type 2 caused by NEB gene mutations is one of the most common forms of nemaline myopathy. Clinical presentation can range from severe neonatal hypotonia with respiratory compromise to milder childhood or adult-onset proximal weakness. I recommend NGS-based comprehensive NEB gene sequencing for any patient presenting with congenital myopathy, proximal muscle weakness, or biopsy-confirmed nemaline rods. Early molecular diagnosis through this test enables accurate prognosis, appropriate respiratory and orthopedic management, informed genetic counseling for family planning, and eligibility for emerging clinical trials. Carrier testing for at-risk family members should also be considered."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood sample in EDTA tube
- Severely hemolyzed or lipemic sample
- Insufficient sample volume (less than 2 mL blood)
- Sample collected in incorrect tube type (e.g., heparin tube instead of EDTA)
- Unlabeled or mislabeled sample container
- Sample received more than 7 days after collection without refrigeration
- FTA card with incomplete drying, mold growth, or contamination
- Extracted DNA with concentration below 20 ng/µL or A260/A280 ratio outside 1.5–2.2 range
- Missing or incomplete requisition form or informed consent
Understanding Your Results
Confirms the molecular diagnosis of NEB Gene Nemaline Myopathy Type 2. Genetic counseling is recommended to discuss prognosis, management options, recurrence risk for family members, and availability of prenatal testing for future pregnancies.
Diagnostic
The individual is a carrier of one pathogenic NEB gene variant. Carrier status alone does not typically cause disease but confirms a 50% chance of passing the variant to offspring. If the partner is also a carrier, there is a 25% risk of affected offspring. Partner testing and genetic counseling are recommended.
Carrier Status
The clinical significance of the detected variant(s) cannot be determined with available evidence. Family segregation studies, additional functional data, and clinical correlation are recommended. Repeat analysis may be warranted as variant databases are updated.
Indeterminate – Requires further evaluation
NEB Gene Nemaline Myopathy Type 2 is unlikely based on this analysis. However, this does not exclude nemaline myopathy caused by mutations in other genes (e.g., ACTA1, TPM2, TPM3, TNNT1, CFL2) or other forms of congenital myopathy. Additional genetic testing, muscle biopsy, or clinical evaluation may be warranted.
Negative – Further workup may be needed
Consult a neurologist or clinical geneticist if your child or a family member presents with muscle weakness, hypotonia, delayed motor milestones, difficulty breathing, difficulty swallowing, or if muscle biopsy reveals nemaline rods. Consultation is also recommended if you are a known carrier of an NEB gene variant and are planning a family, if there is a family history of nemaline myopathy or consanguinity, or if you have received an indeterminate (VUS) result and need further evaluation.
Limitations
- ⚠This test targets coding regions and flanking intronic sequences of the NEB gene; deep intronic variants, regulatory region mutations, and large structural rearrangements may not be fully detected.
- ⚠Copy number variants (large deletions/duplications) may require supplementary MLPA or array CGH analysis for confirmation.
- ⚠Variants of Uncertain Significance (VUS) may be identified, and their clinical relevance cannot be determined without additional family studies and functional data.
- ⚠This test does not evaluate other genes associated with nemaline myopathy (e.g., ACTA1, TPM2, TPM3, TNNT1, CFL2, KBTBD13, LMOD3, MYPN) or other congenital myopathies.
- ⚠Mosaicism at low levels below the detection threshold of the assay may not be identified.
- ⚠Results must be interpreted in the context of clinical findings, family history, and muscle biopsy results by a qualified geneticist or neurologist.
- ⚠A negative result does not completely exclude nemaline myopathy, as other genetic or non-genetic causes may be responsible.
Risks & Considerations
- ●Minor bruising, swelling, or discomfort at the venipuncture (blood draw) site, which typically resolves within a few days.
- ●Very small risk of infection at the needle insertion site, which is minimized by standard aseptic collection technique.
- ●Psychological or emotional impact of receiving genetic test results, particularly if pathogenic variants or carrier status are identified. Pre- and post-test genetic counseling is provided to support patients.
- ●Risk of identifying Variants of Uncertain Significance (VUS), which may cause anxiety and require further investigation without immediate clinical clarity.
- ●Potential implications of genetic results for family members, including reproductive decisions and insurance considerations. Genetic counseling helps navigate these issues.
- ●A negative result does not definitively rule out nemaline myopathy, as other genetic or non-genetic causes may exist.
Interfering Factors
- ●Degraded or low-quality DNA may reduce sequencing coverage and affect variant detection sensitivity.
- ●Hemolyzed or clotted blood samples may compromise DNA extraction yield and quality.
- ●Concurrent infections or recent blood transfusions within the preceding 4 weeks may affect sample purity.
- ●Sample contamination during collection, transport, or processing may produce unreliable results.
- ●Extreme lipemia or presence of PCR inhibitors in the sample may interfere with library preparation.
Compare With Similar Tests
| Test | NEB Gene Nemaline myopathy type 2, autosomal recessive NGS Genetic Test | Muscle Biopsy with Histopathology | Sanger Sequencing of NEB Gene | Whole Exome Sequencing (WES) | Multi-Gene Panel for Congenital Myopathies | Creatine Kinase (CK) Blood Test |
|---|---|---|---|---|---|---|
| Comparison | NEB Gene Nemaline myopathy type 2, autosomal recessive NGS Genetic Test |
Frequently Asked Questions
What is NEB Gene Nemaline Myopathy Type 2?
What causes NEB Gene Nemaline Myopathy Type 2?
What are the symptoms of NEB Gene Nemaline Myopathy Type 2?
How is the NEB Gene NGS Genetic Test performed?
What sample is required for this genetic test?
How long does it take to get the test results?
What is the cost of the NEB Gene Nemaline Myopathy Type 2 NGS Genetic Test?
Is genetic counseling required before and after the test?
Can this test be used for carrier screening?
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Is the NGS Genetic Test covered by insurance in India?
Why should I request Raw Data, FASTQ, and VCF files from the testing laboratory?
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