SLC16A1 Gene Monocarboxylate transporter 1 deficiency NGS Genetic Test
Short Name: SLC16A1 MCT1 Deficiency NGS Test
Also known as: MCT1 Deficiency Genetic Test, SLC16A1 Gene Sequencing Test, SLC16A1 NGS Panel, Monocarboxylate Transporter 1 Mutation Analysis, SLC16A1 DNA Test for Lactate Transport Defect
SLC16A1 Gene Monocarboxylate transporter 1 deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Confirmation, Bioinformatics Pipeline Analysis 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 collection. The report will include variant classification, clinical interpretation, and recommendations. Raw data files (FASTQ and VCF) are also provided along with the clinical report.. 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 SLC16A1 Gene Monocarboxylate Transporter 1 Deficiency NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the SLC16A1 gene that cause MCT1 deficiency. This test confirms the molecular diagnosis in patients presenting with clinical features suggestive of impaired lactate and pyruvate transport, including unexplained lactic acidosis, developmental delays, seizures, intellectual disability, neuromuscular symptoms, and autism spectrum disorder. Genetic confirmation helps guide targeted treatment strategies, metabolic management, dietary interventions, and long-term care planning. It also enables accurate genetic counselling, carrier testing for family members, and informed reproductive decision-making.
- Test Code
- 2180
- CPT Code
- 81479
- ICD Code
- E88.89
- 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 collection. The report will include variant classification, clinical interpretation, and recommendations. Raw data files (FASTQ and VCF) are also provided along with the clinical report.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Confirmation, Bioinformatics Pipeline Analysis
Sample Collection
A genetic counselling session is recommended before sample collection. The counsellor will draw a detailed pedigree chart of family members affected with or suspected of having Monocarboxylate Transporter 1 deficiency. Provide complete clinical history of the patient including onset of symptoms, developmental milestones, family history, and any prior metabolic or genetic testing results. No fasting is required.
Method: Venipuncture
Laboratory Analysis
A blood sample of 3-5 mL will be collected in an EDTA (Lavender Top) vacutainer via standard venipuncture procedure by a trained phlebotomist. Alternatively, one drop of blood on an FTA card or previously extracted DNA may be submitted. The sample will be labelled and transported under appropriate conditions to the laboratory.
Report Delivery
After sample collection, apply pressure on the venipuncture site with sterile cotton for 3-5 minutes. There are no activity restrictions. The sample will undergo DNA extraction, library preparation, and NGS sequencing in the laboratory. Results will be available within 3 to 4 weeks and delivered via online portal, email, or WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample collection. The report will include variant classification, clinical interpretation, and recommendations. Raw data files (FASTQ and VCF) are also provided along with the clinical report.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the SLC16A1 Gene Monocarboxylate Transporter 1 Deficiency NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the SLC16A1 gene that cause MCT1 deficiency. This test confirms the molecular diagnosis in patients presenting with clinical features suggestive of impaired lactate and pyruvate transport, including unexplained lactic acidosis, developmental delays, seizures, intellectual disability, neuromuscular symptoms, and autism spectrum disorder. Genetic confirmation helps guide targeted treatment strategies, metabolic management, dietary interventions, and long-term care planning. It also enables accurate genetic counselling, carrier testing for family members, and informed reproductive decision-making.
How to Prepare
- Collect 3-5 mL of venous blood in an EDTA (Lavender Top) vacutainer
- Gently invert the tube 8-10 times to mix blood with anticoagulant
- Do not freeze the blood sample; store at 2-8 degrees Celsius if not processing immediately
- Label the sample with patient name, date of birth, collection date, and unique ID
- FTA card option: place one full drop of blood on the designated circle and allow to air dry completely
- Ensure proper biohazard packaging and cold chain transport to the laboratory
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"SLC16A1 gene mutations leading to Monocarboxylate Transporter 1 (MCT1) deficiency result in impaired lactate and pyruvate transport across cell membranes. Early genetic confirmation through NGS testing is vital for initiating metabolic support, dietary management, and neurodevelopmental interventions. I recommend this test for any patient presenting with unexplained lactic acidosis, developmental delays, seizures, or neuromuscular symptoms suggestive of a mitochondrial energy metabolism disorder. Genetic counselling should accompany both pre- and post-test phases."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample collected in incorrect anticoagulant (e.g., heparin instead of EDTA)
- Clotted or haemolysed blood sample
- Insufficient sample volume (less than 2 mL)
- Missing or illegible patient identifiers on the sample
- Sample received beyond stability period without prior arrangement
Understanding Your Results
No Pathogenic Variants Detected
No mutations in the SLC16A1 gene were identified. This does not completely exclude MCT1 deficiency if the clinical suspicion remains strong, as some variants may lie outside the sequenced regions. Consider further metabolic evaluation or alternative genetic testing. Clinical correlation is recommended.
Pathogenic Variant(s) Detected (Homozygous)
One or more pathogenic mutations were identified in both copies of the SLC16A1 gene. This confirms the diagnosis of Monocarboxylate Transporter 1 Deficiency. Immediate referral to a metabolic specialist for management planning including metabolic support, dietary modifications, seizure management, and neurodevelopmental assessment is advised. Genetic counselling for the family is recommended.
Pathogenic Variant(s) Detected (Heterozygous / Compound Heterozygous)
Pathogenic mutations were identified in one or both copies of the SLC16A1 gene in a compound heterozygous state. This is consistent with MCT1 deficiency if the variants are in trans (on different alleles). Clinical correlation and parental testing may be required to confirm biallelic inheritance. Refer to a clinical geneticist for comprehensive evaluation.
Likely Pathogenic Variant(s) Detected
Variant(s) identified that are predicted to be pathogenic based on computational and functional evidence, but for which additional data may be needed for definitive classification. Correlation with clinical symptoms, family history, and biochemical findings is essential. Genetic counselling and possible parental testing are recommended.
Variant of Uncertain Significance (VUS)
A genetic variant was identified that cannot currently be classified as pathogenic or benign with available evidence. This result should not be used alone for clinical decision-making. Further functional studies, family segregation analysis, and updated variant databases should be consulted. Regular follow-up with a clinical geneticist is recommended.
Consult a clinical geneticist, metabolic specialist, or neurologist if you or your child experience unexplained persistent lactic acidosis, developmental delays, seizures, intellectual disability, unexplained muscle weakness or fatigue, autism spectrum symptoms, or if a family member has been diagnosed with MCT1 deficiency. Early medical evaluation and genetic testing are crucial for timely intervention and management of Monocarboxylate Transporter 1 deficiency.
Limitations
- ⚠This test does not detect large copy number variations (CNVs) or structural rearrangements unless specified in the analysis pipeline
- ⚠Variants of uncertain significance (VUS) may be identified and may require further functional studies or family segregation analysis
- ⚠This test does not substitute for metabolic biochemical testing such as plasma amino acids, organic acids, or enzyme activity assays
- ⚠Deep intronic variants or regulatory region mutations outside the targeted sequencing region may not be detected
- ⚠Results must be correlated with clinical presentation and interpreted by a qualified geneticist or metabolic specialist
Risks & Considerations
- ●Minor bruising or discomfort at the blood collection site
- ●Very rare risk of fainting during or after venipuncture
- ●Possible identification of variants of uncertain significance (VUS) that may cause anxiety without providing definitive answers
- ●Potential psychological impact of a positive diagnosis requiring genetic counselling support
Interfering Factors
- ●Degraded or insufficient DNA quality from the collected sample may affect sequencing results
- ●Recent blood transfusion within the past 4 weeks may lead to mixed genotype results
- ●Haematological malignancies may introduce somatic variants that complicate germline interpretation
- ●Contamination during sample collection or transport may compromise DNA integrity
Compare With Similar Tests
| Test | SLC16A1 Gene Monocarboxylate transporter 1 deficiency NGS Genetic Test | Whole Exome Sequencing (WES) | Mitochondrial DNA Sequencing | Lactate/Pyruvate Ratio (Biochemical Test) | Chromosomal Microarray (CMA) |
|---|---|---|---|---|---|
| Comparison | SLC16A1 Gene Monocarboxylate transporter 1 deficiency NGS Genetic Test |
Frequently Asked Questions
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