RPGRIP1L Gene COACH syndrome NGS Genetic Test
Short Name: RPGRIP1L COACH NGS Test
Also known as: RPGRIP1L Gene Sequencing, COACH Syndrome Genetic Panel, Ciliopathy Gene Test RPGRIP1L, Joubert Syndrome-Related Disorder Genetic Test, RPGRIP1L Mutation Analysis
RPGRIP1L Gene COACH syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation of Variants, Bioinformatics Pipeline Analysis, ACMG/AMP Variant Classification on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. In cases requiring Sanger confirmation of novel variants or additional family member testing, the turnaround time may be extended. Urgent cases may be prioritised upon request.. 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 primary purpose of the RPGRIP1L Gene COACH Syndrome NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the RPGRIP1L gene that cause COACH syndrome. This molecular confirmation aids in establishing a definitive diagnosis, differentiating COACH syndrome from other Joubert syndrome-related disorders and ciliopathies with overlapping clinical features. Confirmed genetic diagnosis enables accurate genetic counselling for affected families, including carrier testing for at-risk family members and prenatal or preimplantation genetic diagnosis for future pregnancies. The test also supports prognosis assessment and guides multidisciplinary clinical management involving neurology, hepatology, ophthalmology, and developmental paediatrics.
- Test Code
- 1570
- CPT Code
- 81479
- ICD Code
- Q04.3
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. In cases requiring Sanger confirmation of novel variants or additional family member testing, the turnaround time may be extended. Urgent cases may be prioritised upon request.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation of Variants, Bioinformatics Pipeline Analysis, ACMG/AMP Variant Classification
Sample Collection
No special preparation or fasting is required. Ensure that the patient or guardian has provided informed consent. A genetic counselling session is recommended prior to sample collection to document the clinical history, pedigree, and indication for testing. If the patient has had a recent blood transfusion, inform the laboratory so that appropriate sample timing can be advised.
Method: Venipuncture or FTA Card Finger Prick
Laboratory Analysis
A trained phlebotomist will collect 3 to 5 mL of peripheral venous blood in an EDTA (lavender top) tube under standard aseptic conditions. Alternatively, one drop of blood can be collected on an FTA card. For infants or paediatric patients, micro-collection techniques may be used. The sample will be labelled with the patient's details and stored at ambient room temperature for transport.
Report Delivery
The blood sample is transported to DNA Labs India under controlled ambient conditions. DNA extraction is performed, followed by NGS library preparation, sequencing, bioinformatics analysis, and variant interpretation. The report, along with raw data files (FASTQ and VCF), is delivered within 3 to 4 weeks through the online portal, email, and WhatsApp. A post-test genetic counselling session is available to discuss the findings and implications.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. In cases requiring Sanger confirmation of novel variants or additional family member testing, the turnaround time may be extended. Urgent cases may be prioritised upon request.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the RPGRIP1L Gene COACH Syndrome NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the RPGRIP1L gene that cause COACH syndrome. This molecular confirmation aids in establishing a definitive diagnosis, differentiating COACH syndrome from other Joubert syndrome-related disorders and ciliopathies with overlapping clinical features. Confirmed genetic diagnosis enables accurate genetic counselling for affected families, including carrier testing for at-risk family members and prenatal or preimplantation genetic diagnosis for future pregnancies. The test also supports prognosis assessment and guides multidisciplinary clinical management involving neurology, hepatology, ophthalmology, and developmental paediatrics.
How to Prepare
- Collect 3 to 5 mL peripheral blood in an EDTA (lavender top) vacutainer tube
- Alternatively, use one drop of blood on a provided FTA card
- Label the sample clearly with the patient's full name, date of birth, and sample ID
- Do not use heparinised tubes as heparin can interfere with downstream molecular analysis
- Store and transport the sample at ambient room temperature (15 to 30 degrees Celsius)
- Ship the sample to DNA Labs India within 48 hours of collection
- Ensure all required documentation including consent form and clinical history is enclosed
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"COACH syndrome is a ciliopathy that overlaps clinically with Joubert syndrome. Patients presenting with cerebellar vermis hypoplasia, developmental delay, ataxia, ocular coloboma, and hepatic fibrosis should be evaluated with NGS-based gene panels targeting RPGRIP1L. Early molecular confirmation enables targeted multidisciplinary management involving neurology, hepatology, and ophthalmology, and facilitates informed genetic counselling for families regarding recurrence risk."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample collected in heparinised tube
- Haemolysed, clotted, or insufficient sample volume
- Sample with mismatched or missing patient identification labels
- Sample received without signed consent form or clinical history
- Sample older than stability duration without prior notification to laboratory
- Sample contaminated or showing signs of microbial growth
Understanding Your Results
Biallelic Pathogenic or Likely Pathogenic Variants Detected
Confirms the molecular diagnosis of COACH syndrome (autosomal recessive RPGRIP1L-related ciliopathy). Genetic counselling is recommended for the family, and carrier testing should be offered to parents and at-risk relatives. Prenatal and preimplantation genetic diagnosis options should be discussed for future pregnancies.
Clinical action: Initiate multidisciplinary management including neurology, hepatology, ophthalmology, and developmental paediatrics referrals. Monitor hepatic fibrosis progression and ocular findings.
Single Pathogenic or Likely Pathogenic Variant Detected (Heterozygous Carrier)
The individual is a carrier of one RPGRIP1L pathogenic variant. Clinical features of COACH syndrome are not expected in typical carriers. Testing the other parent is recommended if reproductive planning is a concern.
Clinical action: Genetic counselling for carrier implications. Partner testing recommended for reproductive risk assessment.
Variant of Uncertain Significance (VUS) Detected
A variant was identified in the RPGRIP1L gene that cannot be definitively classified as pathogenic or benign based on current evidence. Clinical correlation, family segregation studies, and functional data may help resolve the classification.
Clinical action: Clinical correlation with phenotype. Consider testing parents and affected siblings for segregation. Re-analysis may be performed as new data becomes available.
No Pathogenic Variants Detected (Negative Result)
No pathogenic or likely pathogenic variants were identified in the RPGRIP1L gene. This result does not exclude COACH syndrome if mutations are present in other ciliopathy genes such as TMEM67, CC2D2A, or CEP290.
Clinical action: Consider extended ciliopathy gene panel testing if clinical suspicion remains strong. Discuss alternative diagnoses with the referring physician.
Consult your doctor or genetic counsellor if you or your child exhibits symptoms such as unsteadiness or lack of coordination (ataxia), delayed developmental milestones or intellectual disability, vision problems including coloboma, signs of liver disease or hepatosplenomegaly, or if neuroimaging reveals cerebellar vermis hypoplasia or the molar tooth sign. Additionally, consult a genetics professional if there is a known family history of COACH syndrome, Joubert syndrome-related disorders, or confirmed RPGRIP1L mutations. Genetic counselling is strongly recommended both before and after testing to fully understand the implications of the results for the patient and family members.
Limitations
- ⚠This test does not detect large copy number variations (CNVs), structural rearrangements, or deep intronic variants outside the targeted regions
- ⚠Genetic heterogeneity exists; COACH syndrome can also be associated with mutations in other ciliopathy genes such as TMEM67 and CC2D2A
- ⚠A negative result does not completely exclude COACH syndrome if caused by mutations in other genes or undetectable variant types
- ⚠Variants of uncertain significance may require additional family studies, functional assays, or segregation analysis for classification
- ⚠This test is not validated for somatic mutation detection or tumour samples
- ⚠Pseudogene interference or high homology regions may limit variant calling in specific genomic segments
Risks & Considerations
- ●Minimal physical risk associated with blood collection, including minor bruising or discomfort at the venipuncture site
- ●Potential psychological impact of a positive diagnosis or carrier status, which can be addressed through genetic counselling
- ●Risk of identifying variants of uncertain significance that may cause anxiety and require further investigation
- ●Incidental findings in other genes are not typically reported in targeted gene testing but may be discovered in broader panel or exome testing
Interfering Factors
- ●Degraded or insufficient DNA quality may reduce sequencing coverage and variant detection sensitivity
- ●Blood samples collected in heparin tubes can interfere with NGS library preparation
- ●Recent blood transfusion within the past 4 weeks may affect results due to donor DNA contamination
- ●Mosaicism at low allele frequency may not be reliably detected by standard NGS pipelines
Compare With Similar Tests
| Test | RPGRIP1L Gene COACH syndrome NGS Genetic Test | Joubert Syndrome and Related Disorders Gene Panel | Whole Exome Sequencing (WES) | Chromosomal Microarray Analysis | Sanger Sequencing of RPGRIP1L Gene |
|---|---|---|---|---|---|
| Comparison | RPGRIP1L Gene COACH syndrome NGS Genetic Test | Covers multiple genes associated with Joubert syndrome and related ciliopathies including RPGRIP1L, TMEM67, CC2D2A, CEP290, and others. Recommended when clinical features overlap with multiple ciliopathy subtypes. | Analyses all protein-coding genes across the genome. Useful when targeted gene testing is negative and there is strong clinical suspicion of a genetic aetiology but the causative gene is uncertain. | Detects copy number variations and chromosomal abnormalities. May be used as a first-tier test for intellectual disability but will not identify point mutations in RPGRIP1L. | Traditional sequencing method for targeted analysis of specific exons or known familial mutations. Lower throughput and higher per-base cost compared to NGS but useful for confirmatory testing of known variants. |
Frequently Asked Questions
What is COACH syndrome and what causes it?
How is COACH syndrome diagnosed?
What does the RPGRIP1L Gene COACH Syndrome NGS Genetic Test involve?
What is the cost of the RPGRIP1L Gene COACH Syndrome NGS Genetic Test in India?
Is the RPGRIP1L Gene COACH Syndrome NGS Genetic Test available with home sample collection?
How long does it take to get the results of the RPGRIP1L Gene COACH Syndrome NGS Genetic Test?
What is the inheritance pattern of COACH syndrome?
Who should consider getting the RPGRIP1L Gene COACH Syndrome NGS Genetic Test?
What is the difference between COACH syndrome and Joubert syndrome?
What treatment options are available for COACH syndrome?
Does DNA Labs India provide raw sequencing data with the test report?
Can the RPGRIP1L Gene COACH Syndrome NGS Genetic Test detect all types of genetic mutations?
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