HYLS1 Gene Hydrolethalus syndrome NGS Genetic Test
Short Name: HYLS1 NGS Test
Also known as: HYLS1 Gene Sequencing, Hydrolethalus Syndrome NGS Panel
HYLS1 Gene Hydrolethalus syndrome 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 delivered within 3 to 4 weeks from 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 the HYLS1 Gene Hydrolethalus Syndrome NGS Genetic Test is to identify pathogenic mutations in the HYLS1 gene that cause Hydrolethalus syndrome. This test aids in confirming a clinical diagnosis, providing prognostic information, and enabling carrier testing for at-risk family members. It is also valuable for prenatal diagnosis in families with a known history of the condition.
- Test Code
- 5789
- CPT Code
- 81407
- ICD Code
- Q04.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks from sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a clinical history and genetic counseling session are recommended before the test.
Method: Venipuncture or FTA card spot
Laboratory Analysis
A blood sample is drawn by a trained phlebotomist. For FTA card, a drop of blood is placed on the card and allowed to dry.
Report Delivery
No specific aftercare is needed. The sample is transported to the laboratory for analysis.
Timeline: Reports are delivered within 3 to 4 weeks from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the HYLS1 Gene Hydrolethalus Syndrome NGS Genetic Test is to identify pathogenic mutations in the HYLS1 gene that cause Hydrolethalus syndrome. This test aids in confirming a clinical diagnosis, providing prognostic information, and enabling carrier testing for at-risk family members. It is also valuable for prenatal diagnosis in families with a known history of the condition.
How to Prepare
- Ensure the patient's identity is verified before sample collection.
- Use sterile EDTA vacutainer for blood collection.
- If using FTA card, apply one drop of blood to the designated circle and air dry.
- Label the sample with patient's name, date, and unique ID.
- Transport the sample at ambient temperature to the laboratory within 24 hours.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Hydrolethalus syndrome is a severe autosomal recessive disorder. Early genetic confirmation is crucial for family planning and management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample exposed to extreme temperatures
Understanding Your Results
Positive for pathogenic variant
Confirms the diagnosis of Hydrolethalus syndrome. Genetic counseling is recommended for the family.
Negative for pathogenic variant
No disease-causing mutation found in HYLS1 gene. Other genetic causes may be considered if clinical suspicion remains.
Variant of uncertain significance (VUS)
A genetic variant was found but its clinical significance is unknown. Further testing of family members may help clarify.
Consult a clinical geneticist or pediatrician if you or your child have symptoms suggestive of Hydrolethalus syndrome, or if you have a family history of the condition. Genetic counseling is essential before and after testing.
Limitations
- ⚠This test detects mutations only in the HYLS1 gene; other genes causing similar phenotypes are not analyzed.
- ⚠Large deletions or duplications may not be detected by standard NGS sequencing.
- ⚠Variants of uncertain significance (VUS) may require further family studies.
- ⚠Negative result does not completely rule out Hydrolethalus syndrome if clinical suspicion is high; other genetic causes may be considered.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving a diagnosis of a severe genetic disorder
- ●Potential for uncertain results (VUS) requiring further testing
Interfering Factors
- ●Poor DNA quality or quantity from the sample
- ●Contamination during sample collection or handling
- ●Presence of maternal cell contamination in prenatal samples
- ●Incomplete coverage of the HYLS1 gene due to technical limitations
Compare With Similar Tests
| Test | HYLS1 Gene Hydrolethalus syndrome NGS Genetic Test | Whole Exome Sequencing (WES) | Targeted HYLS1 Single Gene Test | Ciliopathy Panel |
|---|---|---|---|---|
| Comparison | HYLS1 Gene Hydrolethalus syndrome NGS Genetic Test | WES analyzes all coding regions of the genome, whereas this test focuses only on the HYLS1 gene. WES may identify mutations in other genes but is more expensive and time-consuming. | This NGS test is similar to single gene testing but uses NGS technology, which may be more efficient for detecting variants. Both are specific to HYLS1. | A ciliopathy panel includes multiple genes associated with ciliary disorders, including HYLS1. This broader panel may be useful if the clinical presentation is not specific to Hydrolethalus syndrome. |
Frequently Asked Questions
What is Hydrolethalus syndrome?
How is Hydrolethalus syndrome diagnosed?
What is the cost of the HYLS1 gene NGS test in India?
What sample is required for the test?
Is fasting required before the test?
How long does it take to get the results?
What does a positive test result mean?
Can this test be used for prenatal diagnosis?
Are there any risks associated with the test?
Is home sample collection available?
What is the turnaround time for reports?
Who should consider this test?
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