VPS33B Gene Arthrogryposis, renal dysfunction, and cholestasis type 1 NGS Genetic Test
Short Name: VPS33B ARC Syndrome NGS Test
Also known as: ARC Syndrome Type 1 Genetic Test, VPS33B Mutation Analysis, Arthrogryposis Renal Dysfunction Cholestasis NGS Panel, ARC1 Gene Sequencing Test, VPS33B Gene Sequencing
VPS33B Gene Arthrogryposis, renal dysfunction, and cholestasis type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Sequencing (for variant confirmation), Bioinformatic Analysis, Clinical Correlation 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 sample receipt at the laboratory. Reports will be accessible through the online portal, delivered via email, and shared on WhatsApp.. 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 VPS33B Gene NGS Genetic Test is to confirm a clinical diagnosis of ARC syndrome type 1 by identifying pathogenic or likely pathogenic mutations in the VPS33B gene. This test aids clinicians in differentiating ARC syndrome from other conditions with overlapping features such as Pena-Shokeir syndrome, Zellweger spectrum disorders, and other arthrogryposis multiplex congenita syndromes. Additionally, it enables carrier testing for family members, supports genetic counseling regarding recurrence risk, and assists in prenatal diagnostic planning for future pregnancies in families with a known VPS33B mutation.
- Test Code
- 2368
- CPT Code
- 81479
- ICD Code
- Q87.89
- 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 sample receipt at the laboratory. Reports will be accessible through the online portal, delivered via email, and shared on WhatsApp.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Sequencing (for variant confirmation), Bioinformatic Analysis, Clinical Correlation
Sample Collection
No special preparation such as fasting is required. Ensure genetic counseling has been offered prior to sample collection. Provide complete clinical history and family pedigree information to the testing laboratory. Inform the laboratory of any recent blood transfusions (within 30 days) or bone marrow transplants.
Method: Venipuncture / Finger Prick
Laboratory Analysis
A qualified phlebotomist will collect 3-5 mL of venous blood in an EDTA (lavender-top) tube under aseptic conditions. Alternatively, one drop of blood on an FTA card is accepted. Ensure correct labeling of the sample with patient identification details.
Report Delivery
Store the blood sample at room temperature (18-25 degrees Celsius) and transport to the laboratory within 48 hours. Do not freeze the sample. The extracted DNA will be stored under appropriate conditions for potential future testing if required.
Timeline: Results are typically available within 3 to 4 weeks from sample receipt at the laboratory. Reports will be accessible through the online portal, delivered via email, and shared on WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the VPS33B Gene NGS Genetic Test is to confirm a clinical diagnosis of ARC syndrome type 1 by identifying pathogenic or likely pathogenic mutations in the VPS33B gene. This test aids clinicians in differentiating ARC syndrome from other conditions with overlapping features such as Pena-Shokeir syndrome, Zellweger spectrum disorders, and other arthrogryposis multiplex congenita syndromes. Additionally, it enables carrier testing for family members, supports genetic counseling regarding recurrence risk, and assists in prenatal diagnostic planning for future pregnancies in families with a known VPS33B mutation.
How to Prepare
- Collect 3-5 mL venous blood in EDTA (Lavender Top) tube or use FTA card for one drop blood collection
- Do not use heparinized tubes as heparin can interfere with downstream molecular procedures
- Ensure correct labeling of the sample with patient name, date of birth, sample date, and unique ID
- Transport the sample at ambient room temperature (18-25 degrees Celsius) to the laboratory within 48 hours
- Inform the laboratory if the patient has received a blood transfusion in the last 30 days
- Provide completed test requisition form with clinical history and signed informed consent
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"ARC syndrome is a rare autosomal recessive disorder that typically presents in neonates and infants with a triad of joint contractures, renal tubular dysfunction, and cholestatic liver disease. Early molecular confirmation through NGS-based testing of the VPS33B gene is critical for accurate diagnosis, prognostic counseling, and management planning. Genetic counseling for family members and carrier testing for at-risk relatives should be offered following a confirmed diagnosis."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample collected in heparinized tube (heparin inhibits molecular reactions)
- Hemolyzed, clotted, or improperly labeled samples
- Samples without a completed requisition form or informed consent
- Blood transfusion within the past 30 days without prior notification to the laboratory
- Insufficient sample volume (less than 1 mL for extracted DNA)
- Sample received at the laboratory more than 72 hours after collection without proper storage documentation
Understanding Your Results
Two identical pathogenic mutations detected in VPS33B. Confirms diagnosis of ARC syndrome type 1. Autosomal recessive inheritance confirmed. Both parents are obligate carriers.
Diagnostic / Confirmatory
Result type: Homozygous Pathogenic Variants
Two different pathogenic mutations detected on each allele of VPS33B. Confirms diagnosis of ARC syndrome type 1. Both parents carry one pathogenic variant each.
Diagnostic / Confirmatory
Result type: Compound Heterozygous Pathogenic Variants
One pathogenic variant detected in VPS33B. The individual is a carrier of ARC syndrome type 1. Carrier testing of partner may be recommended.
Carrier Status
Result type: Heterozygous Pathogenic Variant (Single)
A variant in VPS33B was identified that currently lacks sufficient evidence to classify as pathogenic or benign. Clinical correlation, family segregation studies, and functional studies may be required.
Uncertain - Further evaluation needed
Result type: Variant of Uncertain Significance (VUS)
No pathogenic or likely pathogenic variants were identified in the VPS33B gene. Does not completely rule out ARC syndrome if caused by mutations in other genes (e.g., VIPAR gene for ARC type 2) or undetectable structural variants.
Negative / Not Diagnostic
Result type: No Pathogenic Variant Detected
Consult a clinical geneticist or pediatrician if your child is born with joint contractures, shows signs of kidney dysfunction (such as renal tubular acidosis), or develops cholestasis (jaundice with pale stools and dark urine). Seek genetic counseling if ARC syndrome has been diagnosed in a family member or if both parents are known carriers of VPS33B mutations. Early consultation is critical for supportive management and family planning decisions.
Limitations
- ⚠This test does not detect large genomic rearrangements, copy number variations, or deep intronic mutations reliably
- ⚠Variants of Uncertain Significance (VUS) may be identified and cannot be used for definitive clinical decisions without additional evidence
- ⚠Negative results do not completely rule out ARC syndrome if caused by mutations in genes other than VPS33B (e.g., VIPAR for ARC type 2)
- ⚠Mosaicism at low levels may not be detected by standard NGS methodology
- ⚠The test does not evaluate epigenetic modifications or mitochondrial DNA variants
- ⚠Results must always be interpreted in conjunction with clinical findings, family history, and other laboratory investigations
Risks & Considerations
- ●Blood collection may cause minor discomfort, bruising, or infection at the puncture site
- ●Potential identification of Variants of Uncertain Significance (VUS) may cause anxiety and require further investigation
- ●Psychological and emotional impact of a confirmed genetic diagnosis on the patient and family members
- ●Potential implications for insurance and employment discrimination (despite legal protections) should be discussed during genetic counseling
Interfering Factors
- ●Degraded or low-quality DNA may compromise sequencing accuracy and coverage uniformity
- ●Contamination of the sample with foreign DNA may lead to erroneous variant calls
- ●Presence of blood transfusion within the past 30 days may affect results due to donor DNA
- ●Hemolyzed or improperly stored blood samples may yield suboptimal DNA quality
- ●Presence of pseudogenes or highly homologous sequences may interfere with alignment and variant calling
Compare With Similar Tests
| Test | VPS33B Gene Arthrogryposis, renal dysfunction, and cholestasis type 1 NGS Genetic Test | VPS33B Sanger Sequencing | Whole Exome Sequencing (WES) | Liver Biopsy and Histopathology |
|---|---|---|---|---|
| Comparison | VPS33B Gene Arthrogryposis, renal dysfunction, and cholestasis type 1 NGS Genetic Test |
Frequently Asked Questions
What is ARC syndrome and what causes it?
What does the VPS33B Gene NGS Genetic Test detect?
Who should get the VPS33B Gene NGS Genetic Test?
What sample is required for the VPS33B Gene NGS Genetic Test?
How long does it take to get the VPS33B Gene NGS Genetic Test results?
What is the cost of the VPS33B Gene NGS Genetic Test in India?
Is free home sample collection available for this test?
Can this test be used for prenatal diagnosis of ARC syndrome?
What does a negative test result mean?
What is the difference between ARC type 1 and ARC type 2?
Is genetic counseling available before and after the test?
Is the VPS33B Gene NGS Genetic Test covered by insurance in India?
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