SLC25A19 Gene Microcephaly, Amish type NGS Genetic Test
Short Name: SLC25A19 NGS Test
Also known as: SLC25A19 Gene Sequencing, Amish Microcephaly Genetic Test
SLC25A19 Gene Microcephaly, Amish type 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 typically available within 3 to 4 weeks after the sample is received at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to identify pathogenic mutations in the SLC25A19 gene that cause microcephaly, Amish type. This test aids in confirming a clinical diagnosis, providing prognostic information, guiding management decisions, and enabling carrier testing and prenatal diagnosis for at-risk family members.
- Test Code
- 5851
- CPT Code
- 81407
- ICD Code
- Q02
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with SLC25A19 Gene Microcephaly, Amish type is recommended before the test.
Method: Venipuncture or FTA card spot
Laboratory Analysis
Blood sample is collected by a trained phlebotomist using standard venipuncture technique. For FTA card, a few drops of blood are placed on the card and allowed to dry.
Report Delivery
No specific precautions are needed. The sample is transported to the laboratory at ambient temperature.
Timeline: Reports are typically available within 3 to 4 weeks after the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the SLC25A19 gene that cause microcephaly, Amish type. This test aids in confirming a clinical diagnosis, providing prognostic information, guiding management decisions, and enabling carrier testing and prenatal diagnosis for at-risk family members.
How to Prepare
- Ensure the patient's identity is verified.
- Use EDTA vacutainer for blood collection.
- If using FTA card, apply blood spots and let dry completely.
- Label the sample with patient details and date of collection.
- Transport the sample to the lab within 24-48 hours.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic diagnosis of SLC25A19-related microcephaly is crucial for management and family counseling. This NGS test provides definitive answers."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged delay without proper storage
Understanding Your Results
Pathogenic variant detected (homozygous or compound heterozygous)
Confirms diagnosis of SLC25A19-related microcephaly (Amish type). Autosomal recessive inheritance.
Pathogenic variant detected (heterozygous)
Carrier status; individual is unaffected but at risk of having affected offspring if partner is also a carrier.
No pathogenic variant detected
SLC25A19 gene mutation is unlikely to be the cause; other genetic or environmental causes should be considered.
Variant of uncertain significance (VUS)
Further testing or family studies may be needed to determine clinical significance.
Consult a clinical geneticist or neurologist if the test result is positive or if you have concerns about microcephaly in yourself or your child. Genetic counseling is recommended for all patients undergoing this test.
Limitations
- ⚠This test detects mutations in the SLC25A19 gene only; other genetic causes of microcephaly are not evaluated.
- ⚠Variant of uncertain significance (VUS) may be reported; further studies may be needed.
- ⚠This test does not detect all possible mutations (e.g., deep intronic variants, large rearrangements) unless specifically validated.
- ⚠Results should be interpreted in the context of clinical findings and family history.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving genetic results
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Contamination of sample with foreign DNA
- ●Poor DNA quality or quantity
- ●Incomplete clinical information may affect interpretation
- ●Presence of large deletions/duplications not detected by standard NGS (unless CNV analysis included)
Compare With Similar Tests
| Test | SLC25A19 Gene Microcephaly, Amish type NGS Genetic Test | Chromosomal Microarray (CMA) | Microcephaly Gene Panel | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | SLC25A19 Gene Microcephaly, Amish type NGS Genetic Test | CMA detects copy number variations (deletions/duplications) across the genome, while this NGS test focuses on sequence variants in the SLC25A19 gene. CMA may miss point mutations. | A panel test includes multiple genes associated with microcephaly, whereas this test is single-gene. Panel may be more comprehensive but costlier. | WES analyzes all coding regions of the genome, providing broader coverage but at a higher cost and with more complex interpretation. |
Frequently Asked Questions
What is the SLC25A19 gene and its role in microcephaly?
What are the symptoms of SLC25A19 gene microcephaly?
How is SLC25A19 gene microcephaly diagnosed?
What is the cost of the SLC25A19 NGS genetic test at DNA Labs India?
What sample is required for this test?
How long does it take to get the results?
Is fasting required before the test?
Who should consider this test?
What does a positive test result mean?
Can this test be done during pregnancy?
Are there any risks associated with the test?
Is genetic counseling included?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.