MICU1 Gene Myopathy with extrapyramidal signs NGS Genetic Test
Short Name: MICU1 Gene Myopathy NGS Test
Also known as: MICU1 Myopathy NGS Test, MICU1 Gene Sequencing Test, MICU1-Related Myopathy Genetic Panel, MICU1 Calcium Signaling Disorder Test, Extrapyramidal Myopathy Genetic Test
MICU1 Gene Myopathy with extrapyramidal signs NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation of Variants, Bioinformatic Analysis, Variant Classification per ACMG Guidelines 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. Urgent cases may be prioritised upon request. Patients will be notified once the report is ready.. 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 mutations in the MICU1 gene through Next-Generation Sequencing to confirm or rule out a diagnosis of MICU1 Gene Myopathy with Extrapyramidal Signs. The test enables early and accurate molecular diagnosis, facilitates carrier detection in family members, supports genetic counselling and reproductive planning, and guides clinical management decisions to prevent or mitigate complications such as progressive respiratory insufficiency.
- Test Code
- 1755
- CPT Code
- 81479
- ICD Code
- G71.0
- 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. Urgent cases may be prioritised upon request. Patients will be notified once the report is ready.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation of Variants, Bioinformatic Analysis, Variant Classification per ACMG Guidelines
Sample Collection
Genetic counselling session to draw a pedigree chart of family members affected with MICU1 Gene Myopathy with Extrapyramidal Signs. Clinical history of the patient who is going for the test must be documented, including age of onset, symptom progression, family history, and consanguinity status. No fasting is required. The sample should be collected and maintained at ambient room temperature during transport.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of venous blood into an EDTA vacutainer. Alternatively, one drop of blood can be applied to an FTA card. The collection site will be cleaned with an antiseptic swab. Patients may feel a brief prick during needle insertion. The procedure typically takes less than 5 minutes.
Report Delivery
The sample will be labelled, sealed, and transported under ambient room temperature conditions to DNA Labs India's NGS laboratory. Mild bruising at the venipuncture site is normal and resolves within a few days. No post-collection restrictions apply.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Urgent cases may be prioritised upon request. Patients will be notified once the report is ready.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic mutations in the MICU1 gene through Next-Generation Sequencing to confirm or rule out a diagnosis of MICU1 Gene Myopathy with Extrapyramidal Signs. The test enables early and accurate molecular diagnosis, facilitates carrier detection in family members, supports genetic counselling and reproductive planning, and guides clinical management decisions to prevent or mitigate complications such as progressive respiratory insufficiency.
How to Prepare
- Ensure the patient has undergone a pre-test genetic counselling session and clinical history documentation.
- Collect 3-5 mL of whole blood in an EDTA (lavender top) vacutainer under aseptic conditions.
- Alternatively, apply one full drop of blood to the designated area of an FTA card and allow it to dry completely.
- Label the sample clearly with patient name, date of birth, unique identifier, and date of collection.
- Store and transport the sample at ambient room temperature. Do not freeze or refrigerate the sample.
- Ship the sample to DNA Labs India within 48 hours of collection for optimal DNA integrity.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"MICU1 gene-related myopathy with extrapyramidal signs is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the MICU1 gene, which encodes a key regulator of mitochondrial calcium uptake. Patients typically present in early childhood with proximal muscle weakness, extrapyramidal movement abnormalities such as dystonia or chorea, and delayed motor milestones. Neuroimaging may reveal basal ganglia involvement. Given the rarity and clinical overlap with other mitochondrial and neuromuscular disorders, molecular confirmation through NGS-based gene sequencing is essential for establishing a definitive diagnosis. Early identification allows for anticipatory management of respiratory complications, targeted physiotherapy, genetic counselling for affected families, and informed reproductive planning. I recommend this test for any patient presenting with unexplained myopathy accompanied by extrapyramidal features, particularly where consanguinity or a family history of similar presentations is noted."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received in a non-EDTA anticoagulant tube
- Haemolysed, clotted, or insufficient volume sample
- Unlabelled or mislabelled sample with discrepant patient identifiers
- Sample received without accompanying clinical history or consent documentation
- Contaminated FTA card or improperly dried blood spot
- Sample collected more than 5 days prior to receipt without FTA card preservation
Understanding Your Results
Two pathogenic or likely pathogenic variants detected (homozygous or compound heterozygous)
Confirms a molecular diagnosis of MICU1 Gene Myopathy with Extrapyramidal Signs. Clinical correlation and genetic counselling are recommended. Family members should be offered targeted carrier testing.
One pathogenic variant and one VUS detected
Possibly diagnostic. Functional studies, segregation analysis in parents, or additional gene panel testing may be required for definitive classification. Clinical correlation is essential.
Two VUS detected
Inconclusive. Variants of uncertain significance cannot confirm or exclude the diagnosis. Follow-up testing, family studies, and periodic reanalysis of variants are recommended.
Only one pathogenic variant detected (carrier status)
The individual is a heterozygous carrier of MICU1-related myopathy. Carrier testing should be offered to reproductive partners in consanguineous or at-risk families.
No pathogenic or likely pathogenic variants detected
MICU1 Gene Myopathy with Extrapyramidal Signs is unlikely. However, this does not exclude other genetic causes. Additional gene panels or whole exome/genome sequencing may be considered based on clinical presentation.
Consult your doctor or genetic specialist if you or your child experiences unexplained progressive muscle weakness, involuntary movements such as dystonia or chorea, delayed motor milestones, difficulty speaking or swallowing, or if there is a known family history of MICU1-related myopathy. Additionally, seek genetic counselling if you are planning a pregnancy and are a known carrier of MICU1 mutations or belong to a consanguineous family with a history of neuromuscular disorders.
Limitations
- ⚠This test does not detect large genomic deletions, duplications, or deep intronic mutations outside the targeted regions unless specifically covered.
- ⚠Variants of uncertain significance (VUS) may be identified and cannot be definitively classified as pathogenic or benign at the time of reporting.
- ⚠Negative results do not entirely exclude other genetic causes of myopathy or extrapyramidal signs involving different genes.
- ⚠This test is not designed for prenatal diagnostic confirmation and should be supplemented with confirmatory prenatal testing where applicable.
- ⚠Mosaicism at low allele frequencies may not be reliably detected.
Risks & Considerations
- ●Mild pain or bruising at the venipuncture site, which resolves within a few days
- ●Very small risk of infection at the blood draw site
- ●Psychological impact of receiving a genetic diagnosis, particularly for asymptomatic carriers or parents of affected children
- ●Risk of identifying variants of uncertain significance that may cause anxiety without providing a definitive answer
- ●Potential implications for life insurance or employment eligibility if genetic information is disclosed, as current protections may be limited in India
Interfering Factors
- ●Degraded or insufficient DNA quality from the collected sample
- ●Recent blood transfusion within the past 30 days may affect genotyping accuracy
- ●Presence of large structural rearrangements or copy number variations not detectable by standard NGS
- ●Sample contamination during collection or transport
Compare With Similar Tests
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