RIN2 Gene Macrocephaly, alopecia, cutis laxa, and scoliosis NGS Genetic Test
Short Name: RIN2 Gene NGS Test
Also known as: RIN2 Gene Sequencing, MACLS Genetic Test, RIN2 Mutation Analysis
RIN2 Gene Macrocephaly, alopecia, cutis laxa, and scoliosis 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 delivered within 3 to 4 weeks after sample receipt.. 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 RIN2 Gene NGS Genetic Test is to confirm or rule out mutations in the RIN2 gene in individuals presenting with clinical features suggestive of MACLS syndrome. This test aids in establishing a definitive diagnosis, which is essential for prognosis, genetic counseling, and management planning. It also helps in identifying carriers in family members and provides information for reproductive decisions.
- Test Code
- 5826
- CPT Code
- 81407
- ICD Code
- Q87.89
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically delivered within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation required. However, a genetic counseling session is recommended to discuss the test implications and family history.
Method: Venipuncture or Finger-prick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a simple finger-prick is sufficient.
Report Delivery
No restrictions. You can resume normal activities immediately.
Timeline: Reports are typically delivered within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the RIN2 Gene NGS Genetic Test is to confirm or rule out mutations in the RIN2 gene in individuals presenting with clinical features suggestive of MACLS syndrome. This test aids in establishing a definitive diagnosis, which is essential for prognosis, genetic counseling, and management planning. It also helps in identifying carriers in family members and provides information for reproductive decisions.
How to Prepare
- Ensure the sample is collected in the provided EDTA tube or FTA card.
- Label the sample with patient's name and date of birth.
- For home collection, keep the sample at room temperature and hand over to the courier promptly.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of RIN2 mutations is crucial for managing associated complications and providing appropriate developmental support."
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 transit without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of RIN2-related syndrome. Genetic counseling recommended for family members.
Likely pathogenic variant detected
Highly suggestive of disease; further testing may be needed to confirm.
Variant of uncertain significance (VUS)
Cannot determine clinical significance; additional family studies or functional assays may be required.
No pathogenic variants detected
RIN2 gene mutations are unlikely; consider other genetic causes.
Consult a clinical geneticist or pediatrician if your child exhibits symptoms such as enlarged head, hair loss, loose skin, or spinal curvature. Early referral for genetic testing can aid in management and family planning.
Limitations
- ⚠NGS may not detect large deletions/duplications (requires additional testing)
- ⚠Variants of uncertain significance may require further family studies
- ⚠Not a whole-genome sequencing test; only RIN2 gene is analyzed
- ⚠Results should be interpreted in context of clinical findings
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
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Recent blood transfusion (within 2 weeks)
- ●Bone marrow transplantation
Compare With Similar Tests
| Test | RIN2 Gene Macrocephaly, alopecia, cutis laxa, and scoliosis NGS Genetic Test | Whole Exome Sequencing (WES) | Chromosomal Microarray (CMA) | Targeted RIN2 Sanger Sequencing |
|---|---|---|---|---|
| Comparison | RIN2 Gene Macrocephaly, alopecia, cutis laxa, and scoliosis NGS Genetic Test |
Frequently Asked Questions
What is the RIN2 gene and what does its mutation cause?
What are the common symptoms of RIN2 gene mutation?
How is the RIN2 gene NGS test performed?
What is the cost of the RIN2 gene NGS test at DNA Labs India?
How long does it take to get the results?
Is fasting required before the test?
Can this test be done on children?
What is the sample type for this test?
Are there any risks associated with the test?
Will insurance cover the cost of this test?
What does a positive result mean?
What if the result is negative?
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₹20,000Reference 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.
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