FAM58A Gene Toe syndactyly, telecanthus, and anogenital and renal malformations NGS Genetic Test
Short Name: FAM58A NGS Genetic Test
Also known as: FAM58A Gene Sequencing, Toe Syndactyly Telecanthus Anogenital Renal Malformations Panel
FAM58A Gene Toe syndactyly, telecanthus, and anogenital and renal malformations 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 3 to 4 weeks after sample receipt. 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 test is to confirm or rule out a genetic cause for symptoms such as toe syndactyly, telecanthus, anogenital and renal malformations. It helps in establishing a precise diagnosis, guiding treatment decisions, assessing recurrence risk, and enabling informed family planning.
- Test Code
- 5958
- CPT Code
- 81407
- ICD Code
- Q87.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks after sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. A genetic counseling session is recommended before the test to discuss implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A blood sample is drawn by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No restrictions. You can resume normal activities immediately.
Timeline: 3 to 4 weeks after sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm or rule out a genetic cause for symptoms such as toe syndactyly, telecanthus, anogenital and renal malformations. It helps in establishing a precise diagnosis, guiding treatment decisions, assessing recurrence risk, and enabling informed family planning.
How to Prepare
- For blood: Use EDTA vacutainer, fill to indicated mark.
- For FTA card: Apply one drop of blood onto the card, allow to air dry.
- Label the sample with patient name, date, and ID.
- Transport at room temperature.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic diagnosis of FAM58A-related disorders is crucial for timely management of renal and anogenital anomalies. NGS provides a comprehensive and rapid evaluation."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged delay without proper storage
Understanding Your Results
No pathogenic variant detected
No evidence of FAM58A-related disorder. Clinical correlation advised.
Pathogenic variant detected
Confirms the genetic diagnosis. Genetic counseling recommended.
Variant of uncertain significance (VUS)
Further testing or family studies may be needed to clarify significance.
Consult a clinical geneticist or pediatrician if you notice symptoms such as fused toes, widely spaced eyes, or genital/renal abnormalities in your child. Early referral can lead to timely diagnosis and management.
Limitations
- ⚠This test detects mutations only in the FAM58A gene; other genes may be involved.
- ⚠Variant of uncertain significance (VUS) may be reported; further analysis may be needed.
- ⚠Not a substitute for clinical evaluation by a geneticist.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Insufficient sample quantity
- ●Presence of maternal cell contamination in prenatal samples
- ●Recent blood transfusion (may dilute DNA)
Compare With Similar Tests
| Test | FAM58A Gene Toe syndactyly, telecanthus, and anogenital and renal malformations NGS Genetic Test | Whole Exome Sequencing | Targeted FAM58A Sanger Sequencing |
|---|---|---|---|
| Comparison | FAM58A Gene Toe syndactyly, telecanthus, and anogenital and renal malformations NGS Genetic Test | WES analyzes all coding regions of genes, whereas this test focuses only on FAM58A. WES is more comprehensive but costlier. | Sanger sequencing is for single known mutations, while NGS can detect novel variants across the gene. |
Frequently Asked Questions
What is the FAM58A gene?
What does this NGS genetic test detect?
Who should get this test?
What is the cost of the test?
What sample is required?
Is fasting required?
How long does it take to get results?
Is home sample collection available?
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Can this test be done during pregnancy?
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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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