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SLC26A2 Gene Achondrogenesis type 1B NGS Genetic Test

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SLC26A2 Gene Achondrogenesis type 1B NGS Genetic Test

Short Name: Achondrogenesis Type 1B Genetic Test

Also known as: Achondrogenesis Type 1B, SLC26A2-related skeletal dysplasia, Diastrophic Dysplasia Variant

SLC26A2 Gene Achondrogenesis type 1B NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic TestPrenatal/Neonatal/All ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify mutations in the SLC26A2 gene to confirm a diagnosis of Achondrogenesis type 1B, guide clinical management, and provide information for genetic counseling and family planning.

Test Code
4807
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No specific preparation is required. Ensure genetic counseling is scheduled to discuss the test and implications.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture or finger-prick. For FTA card, a drop of blood is applied.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store samples as instructed for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to understand the test implications. Provide clinical history and family pedigree information.
2
During the Test:The test involves a simple blood draw or DNA sample collection. The process is quick and minimally invasive.
3
After the Test:Results are available in 3-4 weeks. Follow up with your healthcare provider for interpretation and management.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the SLC26A2 gene to confirm a diagnosis of Achondrogenesis type 1B, guide clinical management, and provide information for genetic counseling and family planning.

How to Prepare

  • Use sterile equipment for sample collection
  • Label samples correctly with patient details
  • Transport samples at ambient room temperature unless specified
  • Avoid hemolysis by handling blood samples gently

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for Achondrogenesis type 1B is crucial for early diagnosis, especially in prenatal settings or families with a history of skeletal disorders, enabling informed management and counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL blood or equivalent DNA
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood samples: Stable for 48 hours at room temperature
Extracted DNA: Stable for several days at 4°C or long-term at -20°C
FTA card samples: Stable for years at room temperature if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples
  • Samples stored outside recommended conditions

Understanding Your Results

Results from the SLC26A2 Gene NGS Genetic Test should be interpreted in the context of clinical findings and family history. A positive result indicates the presence of pathogenic variants associated with Achondrogenesis type 1B.
📊

Positive for pathogenic variant

Confirms diagnosis of Achondrogenesis type 1B. Genetic counseling and management planning are recommended.

📊

Negative for pathogenic variants

No mutations detected in the SLC26A2 gene. Clinical correlation is advised if symptoms persist.

📊

Variant of uncertain significance (VUS)

A genetic variant was found, but its clinical significance is unclear. Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a doctor if you have a family history of skeletal dysplasias, prenatal ultrasound abnormalities, or if your child shows symptoms such as severe limb shortening, breathing difficulties, or low muscle tone. After receiving test results, seek genetic counseling for interpretation and next steps.

Limitations

  • ⚠May not detect all possible mutations in the SLC26A2 gene, such as large deletions or duplications
  • ⚠Results require interpretation by a qualified geneticist or healthcare provider
  • ⚠Does not assess for other genetic disorders unless specified
  • ⚠Variant of uncertain significance (VUS) may be identified, requiring further evaluation

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection at the puncture site
  • ●Psychological impact of genetic results, requiring counseling support
  • ●Potential for incidental findings unrelated to Achondrogenesis type 1B

Interfering Factors

  • ●Sample contamination during collection or transport
  • ●Degraded DNA due to improper storage or handling
  • ●Presence of inhibitors in the sample affecting sequencing
  • ●Recent blood transfusions may interfere with genetic analysis

Compare With Similar Tests

TestSLC26A2 Gene Achondrogenesis type 1B NGS Genetic TestFGFR3 Gene Test for AchondroplasiaCOL2A1 Gene Test for Type II Collagen DisordersComprehensive Skeletal Dysplasia Panel
ComparisonSLC26A2 Gene Achondrogenesis type 1B NGS Genetic TestFocuses on FGFR3 gene mutations causing achondroplasia, a different skeletal dysplasia with milder symptoms.Detects mutations in COL2A1 gene associated with disorders like Stickler syndrome, which may overlap in symptoms.A broader panel testing multiple genes for various skeletal dysplasias, useful for differential diagnosis.

Frequently Asked Questions

What is Achondrogenesis type 1B?
Achondrogenesis type 1B is a rare genetic disorder caused by mutations in the SLC26A2 gene, leading to severe skeletal abnormalities such as shortened limbs, small chest, and underdeveloped lungs.
How is the SLC26A2 gene test performed?
The test uses Next-Generation Sequencing (NGS) technology to analyze the SLC26A2 gene from a blood or DNA sample, detecting mutations associated with Achondrogenesis type 1B.
What are the symptoms of Achondrogenesis type 1B?
Symptoms include severe limb shortening, small body size, large head with prominent forehead, small chin, underdeveloped lungs, difficulty breathing, and low muscle tone, often detected prenatally or at birth.
Who should consider this genetic test?
Individuals with a family history of skeletal dysplasias, prenatal ultrasound abnormalities, or clinical symptoms suggestive of Achondrogenesis type 1B should consider this test.
What is the cost of the test?
The SLC26A2 Gene Achondrogenesis type 1B NGS Genetic Test costs INR 20,000 at DNA Labs India, with free home sample collection available.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across India, including major cities like Mumbai, Delhi, and Bangalore.
What does a positive result mean?
A positive result indicates the presence of pathogenic mutations in the SLC26A2 gene, confirming a diagnosis of Achondrogenesis type 1B. Genetic counseling is recommended for management.
Can this test be done during pregnancy?
Yes, the test can be performed prenatally using fetal DNA from amniocentesis or chorionic villus sampling, but consultation with a healthcare provider is essential.
What are the risks of the test?
Risks are minimal, including slight bruising from blood draw. Psychological impacts may occur, so genetic counseling is advised before and after testing.
How accurate is the NGS genetic test?
NGS technology is highly accurate for detecting mutations in the SLC26A2 gene, but no test is 100% infallible. Results should be interpreted by a qualified geneticist.
What should I do after receiving the results?
After receiving results, consult a genetic counselor or healthcare provider for interpretation, management options, and family planning advice.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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