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ALOX12B Gene Ichthyosis, congenital, autosomal recessive, type 2 NGS Genetic Test

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ALOX12B Gene Ichthyosis, congenital, autosomal recessive, type 2 NGS Genetic Test

Short Name: ALOX12B Ichthyosis NGS Test

Also known as: ARCI2 Genetic Test, Congenital Ichthyosis Type 2 NGS Test, Autosomal Recessive Congenital Ichthyosis Type 2 Genetic Test, Lamellar Ichthyosis Type 2 DNA Test, ALOX12B Mutation Analysis

ALOX12B Gene Ichthyosis, congenital, autosomal recessive, type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing Confirmation, Bioinformatics Analysis, ACMG 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 collection. Reports are delivered via the online portal, email, and WhatsApp.. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)UnisexAll 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 the ALOX12B Gene Ichthyosis NGS Genetic Test is to identify pathogenic mutations in the ALOX12B gene that cause Congenital Autosomal Recessive Ichthyosis Type 2 (ARCI2). This test enables definitive molecular diagnosis of the condition, distinguishes ARCI2 from other forms of ichthyosis, facilitates carrier detection in family members, supports prenatal and preconception genetic counselling, and guides personalized treatment and management strategies for affected individuals.

Test Code
2418
CPT Code
81479
ICD Code
Q80.2
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 collection. Reports are delivered via the online portal, email, and WhatsApp.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Sequencing Confirmation, Bioinformatics Analysis, ACMG Variant Classification
Step 1

Sample Collection

No special preparation or fasting is required. A genetic counselling session is recommended prior to sample collection to document clinical history and draw a pedigree chart of family members affected with ALOX12B Gene Ichthyosis.

Method: Venipuncture / FTA Card finger-prick

Step 2

Laboratory Analysis

A blood sample of 3-5 mL will be collected via venipuncture into an EDTA vacutainer, or alternatively a single drop of blood can be applied to an FTA card. The procedure takes approximately 5-10 minutes.

Step 3

Report Delivery

Apply gentle pressure to the puncture site with a cotton ball for 3-5 minutes. The sample will be transported under controlled conditions to the laboratory for DNA extraction and NGS analysis.

Timeline: Results are typically available within 3 to 4 weeks from the date of sample collection. Reports are delivered via the online portal, email, and WhatsApp.

Patient Instructions

1
Before the Test:A pre-test genetic counselling session is conducted to document the patient's clinical history, family history, and draw a pedigree chart. No fasting is required. Bring any previous dermatological or genetic test reports for reference.
2
During the Test:A blood sample (3-5 mL) is collected via venipuncture into an EDTA tube, or a single drop of blood is applied to an FTA card. The collection procedure is quick and minimally invasive, typically completed within 5-10 minutes.
3
After the Test:After sample collection, gentle pressure is applied to the puncture site. The sample is transported to the laboratory under controlled conditions. DNA is extracted and analyzed using NGS technology. A post-test genetic counselling session is recommended to discuss results.

About This Test

Who Should Get This Test

The purpose of the ALOX12B Gene Ichthyosis NGS Genetic Test is to identify pathogenic mutations in the ALOX12B gene that cause Congenital Autosomal Recessive Ichthyosis Type 2 (ARCI2). This test enables definitive molecular diagnosis of the condition, distinguishes ARCI2 from other forms of ichthyosis, facilitates carrier detection in family members, supports prenatal and preconception genetic counselling, and guides personalized treatment and management strategies for affected individuals.

How to Prepare

  • Ensure the patient has not received a blood transfusion in the past 4 weeks
  • Use an EDTA (lavender top) vacutainer for whole blood collection
  • Alternatively, use an FTA card with a single drop of blood from a finger-prick
  • Label the sample correctly with patient name, date of birth, and sample ID
  • Store the sample at ambient room temperature and transport within 48 hours
  • Complete the clinical history and consent form prior to sample collection

Doctor's Notes

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

"Congenital ichthyosis can be detected prenatally or diagnosed at birth. As an obstetrician, I frequently counsel couples with a family history of autosomal recessive skin disorders. The ALOX12B NGS Genetic Test is invaluable for confirming a clinical diagnosis, identifying carriers within families, and enabling informed reproductive planning. Early molecular diagnosis helps guide neonatal care and long-term dermatological management, significantly improving quality of life for affected children and their families."

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 whole blood
ContainerEDTA (Lavender Top) Vacutainer or FTA Card
Collection MethodVenipuncture / FTA Card finger-prick

Sample Stability

Whole blood in EDTA at ambient temperature
Extracted DNA at 2-8°C
FTA Card at ambient temperature
Sample Rejection Criteria:
  • Sample collected in incorrect anticoagulant (e.g., heparin instead of EDTA)
  • Hemolyzed, clotted, or insufficient sample volume
  • Sample received without proper labeling or patient identification
  • Sample contaminated or improperly stored during transit
  • Missing or incomplete clinical history and consent documentation

Understanding Your Results

The results of the ALOX12B Gene Ichthyosis NGS Genetic Test will indicate whether pathogenic or likely pathogenic mutations were identified in the ALOX12B gene. Results should be interpreted by a qualified geneticist or genetic counsellor in the context of the patient's clinical presentation and family history.
📊

Confirms the diagnosis of ALOX12B-related Congenital Autosomal Recessive Ichthyosis Type 2 (ARCI2). Both copies of the ALOX12B gene carry disease-causing mutations. Both parents are confirmed carriers.

📊

Confirms ARCI2 diagnosis with two different pathogenic mutations in the ALOX12B gene, one inherited from each parent. Both parents are carriers of different mutations.

📊

The individual is a carrier of one pathogenic ALOX12B mutation. They are typically unaffected but can pass the mutation to offspring. Partner testing is recommended for family planning.

📊

A genetic variant in ALOX12B was identified but its clinical significance is currently unknown. Further family studies, functional analysis, or follow-up may be needed for reclassification.

📊

No disease-causing variants were identified in the ALOX12B gene. This does not completely exclude ichthyosis, as mutations in other genes may be responsible. Clinical correlation and additional testing may be warranted.

⚠️ When to Consult a Doctor:

Consult a dermatologist or clinical geneticist if your newborn presents with collodion membrane, persistent dry and scaling skin, erythroderma, or any features suggestive of congenital ichthyosis. Seek genetic counselling if there is a family history of ichthyosis or if you are planning a pregnancy and are a known carrier of ALOX12B mutations.

Limitations

  • ⚠This test does not detect large genomic rearrangements or copy number variations unless specifically included
  • ⚠Deep intronic mutations outside the targeted regions may not be identified
  • ⚠Variants of uncertain significance (VUS) may require further family studies for classification
  • ⚠Results should always be interpreted in conjunction with clinical findings and family history
  • ⚠This test does not screen for mutations in other ichthyosis-associated genes unless a panel is ordered

Risks & Considerations

  • ●Minor bruising or discomfort at the venipuncture site
  • ●Very small risk of infection at the puncture site
  • ●Emotional impact of genetic test results; genetic counselling is recommended
  • ●Possibility of identifying variants of uncertain significance (VUS) that may cause anxiety

Interfering Factors

  • ●Degraded or insufficient DNA quality in the sample
  • ●Recent blood transfusion within the past 4 weeks may affect results
  • ●Contamination of the sample during collection or transport
  • ●Presence of mosaicism may not be fully detected

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Frequently Asked Questions

What is ALOX12B Gene Ichthyosis?
ALOX12B Gene Ichthyosis, also known as Congenital Autosomal Recessive Ichthyosis Type 2 (ARCI2), is a rare genetic skin disorder caused by mutations in the ALOX12B gene on chromosome 17p13.1. This gene encodes an enzyme critical for normal skin barrier formation. Mutations lead to impaired skin barrier function, resulting in dry, scaling, and thickened skin from birth.
How is ALOX12B Gene Ichthyosis inherited?
ALOX12B Gene Ichthyosis follows an autosomal recessive inheritance pattern. This means both parents must carry one copy of the mutated ALOX12B gene. When both parents are carriers, there is a 25% chance with each pregnancy that the child will be affected, a 50% chance the child will be a carrier, and a 25% chance the child will be unaffected and not a carrier.
What are the symptoms of ALOX12B Gene Ichthyosis?
Symptoms include dry, scaly skin that may be present from birth, often preceded by a collodion membrane. Other features include itching, pain, redness and inflammation, cracked skin, increased risk of skin infections, and in some cases, hair loss. The severity varies from person to person and may change over time.
How is ALOX12B Gene Ichthyosis diagnosed?
Diagnosis is typically made by a dermatologist based on clinical symptoms and a skin biopsy. A genetic test, such as the NGS Genetic Test offered by DNA Labs India, can confirm the diagnosis by identifying specific mutations in the ALOX12B gene. Genetic testing is the gold standard for definitive diagnosis.
What is the NGS Genetic Test for ALOX12B Gene Ichthyosis?
The Next-Generation Sequencing (NGS) Genetic Test analyzes the entire ALOX12B gene to detect mutations including point mutations, small insertions, deletions, and splice site variants. NGS technology offers high sensitivity and specificity, enabling comprehensive analysis of the gene in a single test.
What sample is required for the ALOX12B NGS Genetic Test?
The test can be performed on a blood sample (3-5 mL collected in an EDTA vacutainer), extracted DNA, or a single drop of blood applied to an FTA card. No fasting is required prior to sample collection.
How long does it take to get the results of the ALOX12B NGS Genetic Test?
Results are typically available within 3 to 4 weeks from the date of sample collection. The report is delivered via the online portal, email, and WhatsApp for your convenience.
What is the cost of the ALOX12B Gene Ichthyosis NGS Genetic Test in India?
The cost of the ALOX12B Gene Ichthyosis NGS Genetic Test at DNA Labs India is INR 20,000. This price includes free home sample collection across India, NGS genetic analysis, a genetic counselling session, and digital report delivery.
Is the ALOX12B NGS Genetic Test available across India?
Yes, DNA Labs India offers free home sample collection for this test across numerous cities in India including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, Jaipur, Lucknow, and many more. Online booking is available for your convenience.
Can this test be used for carrier testing and prenatal diagnosis?
Yes, the ALOX12B NGS Genetic Test can identify carriers of ALOX12B mutations. For families with a known mutation, targeted carrier testing and prenatal diagnosis can be arranged. Genetic counselling is recommended before and after carrier or prenatal testing.
Is there a cure for ALOX12B Gene Ichthyosis?
There is currently no cure for ALOX12B Gene Ichthyosis. Management focuses on symptom relief through emollients, moisturizers, keratolytics, and careful skin care routines. Early diagnosis through genetic testing helps in implementing appropriate management strategies and avoiding complications such as skin infections.
How accurate is the NGS Genetic Test for ALOX12B Gene Ichthyosis?
The NGS Genetic Test has a detection sensitivity of greater than 99% for point mutations and small insertions/deletions within the ALOX12B gene. Positive findings are typically confirmed using Sanger sequencing. However, the test may not detect large genomic rearrangements or deep intronic variants outside the targeted regions.
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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