CCDC88C Gene Hydrocephalus, nonsyndromic, autosomal recessive type 1 NGS Genetic Test
Short Name: CCDC88C Hydrocephalus NGS
Also known as: CCDC88C-associated Hydrocephalus Genetic Test, Autosomal Recessive Hydrocephalus Type 1 NGS Panel, Nonsyndromic Hydrocephalus NGS Test
CCDC88C Gene Hydrocephalus, nonsyndromic, autosomal recessive type 1 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 issued within 3 to 4 weeks from the date of 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
To detect pathogenic sequence variants in the CCDC88C gene to confirm a genetic diagnosis of nonsyndromic autosomal recessive hydrocephalus type 1.
- Test Code
- 4145
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are issued within 3 to 4 weeks from the date of sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting required. Medical records and a pedigree diagram are recommended. Genetic counselling is requested prior to testing to document consent and family history.
Method: Venipuncture / FTA card spot / DNA extraction
Laboratory Analysis
A trained technician will collect 2 ml of peripheral blood in an EDTA vacutainer. For patients opting for FTA card, a single drop of blood is applied to the card and allowed to air dry.
Report Delivery
The sample is transported to the laboratory at room temperature. The results will be shared after 3 to 4 weeks. Please inform the physician of any known genetic variants in the family.
Timeline: Reports are issued within 3 to 4 weeks from the date of sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic sequence variants in the CCDC88C gene to confirm a genetic diagnosis of nonsyndromic autosomal recessive hydrocephalus type 1.
How to Prepare
- Fill the EDTA vacutainer completely to avoid dilution.
- If using FTA card, label the card and let it air dry for 30 minutes.
- Samples should be shipped in a leak-proof biohazard bag.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Differential diagnosis of hydrocephalus requires a multidisciplinary approach. Genetic testing may be useful when structural causes are excluded."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed or clotted blood
- Inadequately labelled sample
- FTA card soaked with too much blood
- Sample with incomplete documentation
Understanding Your Results
Homozygous or compound heterozygous pathogenic variants in CCDC88C
Single heterozygous pathogenic variant
No pathogenic variants detected
Variants of uncertain significance (VUS)
If you or your child are experiencing symptoms such as increasing head circumference, headache, vomiting, visual problems, seizures, or neurodevelopmental delay, consult your paediatrician or neurologist promptly. This genetic test should only be ordered after clinical evaluation.
Limitations
- ⚠Test detects point mutations and small insertions/deletions in coding regions and splice sites; large deletions/duplications may not be detected by standard NGS.
- ⚠Variant interpretation may require familial segregation studies.
- ⚠Regulatory regions and deep intronic variants are not routinely analysed.
Risks & Considerations
- ●Minimal risks: bruising at the needle site, dizziness, or, very rarely, infection.
Interfering Factors
- ●Poor DNA quality from degraded sample
- ●Maternal cell contamination (if prenatal sample)
- ●Incomplete clinical information may affect interpretation
Compare With Similar Tests
| Test | CCDC88C Gene Hydrocephalus, nonsyndromic, autosomal recessive type 1 NGS Genetic Test | ||||
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| Comparison | CCDC88C Gene Hydrocephalus, nonsyndromic, autosomal recessive type 1 NGS Genetic Test |
Frequently Asked Questions
What is CCDC88C gene hydrocephalus?
What are the symptoms of CCDC88C-associated hydrocephalus?
How is this condition diagnosed?
What is an NGS genetic test?
What is the cost of the CCDC88C gene hydrocephalus NGS test?
What type of sample is required?
Is fasting required before the test?
How long will the test report take?
Does this test detect all causes of hydrocephalus?
Can carriers be identified by this test?
Is home sample collection available?
Who should undergo this genetic test?
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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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