ALAS2 Gene Protoporphyria, erythropoietic, X-linked NGS Genetic Test
Short Name: ALAS2 EPP NGS Test
Also known as: ALAS2 Gene Sequencing Test, X-linked Erythropoietic Protoporphyria Genetic Test, X-linked Protoporphyria DNA Test, EPP X-linked NGS Test, ALAS2 Mutation Analysis
ALAS2 Gene Protoporphyria, erythropoietic, X-linked NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatic Variant Analysis, ACMG Classification of Variants on Blood samples. Results in 15 to 21 working days from the date of sample receipt at the laboratory. 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 purpose of the ALAS2 Gene Protoporphyria NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the ALAS2 gene associated with X-linked erythropoietic protoporphyria. This test aids in confirming a clinical diagnosis, differentiating X-linked EPP from other forms of protoporphyria (particularly FECH-related autosomal recessive EPP), determining carrier status in females, guiding treatment and management decisions, facilitating genetic counseling for affected families, and enabling prenatal or preconception carrier screening when indicated.
- Test Code
- 2225
- CPT Code
- 81479
- ICD Code
- E80.0
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- 15 to 21 working days from the date of sample receipt at the laboratory
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatic Variant Analysis, ACMG Classification of Variants
Sample Collection
No special preparation such as fasting is required. Ensure that genetic counseling is completed prior to sample collection. Provide detailed clinical history and a pedigree chart of affected family members to the genetic counselor. Discontinue any biotin supplements at least 48 hours before sample collection if applicable.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect approximately 4 mL of venous blood using standard aseptic technique into an EDTA (lavender-top) vacutainer tube. The tube will be gently inverted 8–10 times to ensure proper mixing with the anticoagulant. The sample will be labeled with patient details and stored at ambient temperature.
Report Delivery
The blood sample is transported to the laboratory under controlled ambient conditions. No post-collection restrictions apply. The patient may resume normal activities immediately after blood draw. Reports will be available within 15 to 21 working days and delivered via the online portal, email, or WhatsApp.
Timeline: 15 to 21 working days from the date of sample receipt at the laboratory
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ALAS2 Gene Protoporphyria NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the ALAS2 gene associated with X-linked erythropoietic protoporphyria. This test aids in confirming a clinical diagnosis, differentiating X-linked EPP from other forms of protoporphyria (particularly FECH-related autosomal recessive EPP), determining carrier status in females, guiding treatment and management decisions, facilitating genetic counseling for affected families, and enabling prenatal or preconception carrier screening when indicated.
How to Prepare
- Collect 4 mL of venous blood in an EDTA (lavender-top) vacutainer
- Gently invert the tube 8–10 times to mix blood with anticoagulant
- Do not freeze the sample; maintain at ambient room temperature (15–30°C)
- Label the sample with patient name, date of birth, and unique identifier
- Transport to the laboratory within 48 hours of collection
- Avoid hemolysis by using appropriate needle gauge and gentle handling
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"X-linked erythropoietic protoporphyria (XLEPP) caused by gain-of-function mutations in the ALAS2 gene is an important consideration in families with a history of photosensitivity and porphyrin disorders. Males are typically more severely affected, while females carrying the mutation may exhibit variable clinical expression due to X-inactivation patterns. Early genetic identification through NGS allows targeted management, genetic counseling for family planning, and screening of at-risk relatives. I recommend this test for any individual presenting with unexplained cutaneous photosensitivity, particularly males with a family history suggestive of X-linked inheritance."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Sample collected in incorrect anticoagulant tube (non-EDTA)
- Insufficient volume (less than 2 mL)
- Sample without proper labeling or identification
- Sample older than 7 days at ambient temperature or 14 days if refrigerated
- Contaminated or leaking sample container
Understanding Your Results
Pathogenic Variant Detected
A confirmed disease-causing mutation in the ALAS2 gene was identified. This is consistent with a diagnosis of X-linked erythropoietic protoporphyria. Genetic counseling is recommended for the patient and at-risk family members.
Likely Pathogenic Variant Detected
A variant was identified that is likely to be disease-causing based on available evidence. Clinical correlation and family segregation studies may be recommended for confirmation.
Variant of Uncertain Significance (VUS)
A genetic variant was identified, but current evidence is insufficient to classify it as pathogenic or benign. Periodic re-evaluation is advised as new data may become available. Clinical management should be based on clinical and biochemical findings.
Likely Benign Variant Detected
A variant was identified that is unlikely to be associated with X-linked EPP. No disease-causing mutation was found in the clinically relevant regions of ALAS2.
No Pathogenic Variant Detected
No mutations associated with X-linked erythropoietic protoporphyria were identified in the ALAS2 gene. This result does not exclude protoporphyria caused by mutations in other genes (e.g., FECH). Clinical correlation is advised.
Consult a geneticist or hematologist if you or your child experiences unexplained painful skin reactions upon sun exposure, if biochemical tests show elevated erythrocyte or plasma protoporphyrin levels, if there is a family history of porphyria or photosensitivity disorders, or if you have been identified as a carrier of an ALAS2 mutation and are planning a pregnancy. Immediate medical attention is warranted if symptoms of liver dysfunction (jaundice, abdominal pain, dark urine) develop, as protoporphyric hepatopathy is a serious complication.
Limitations
- ⚠This test does not detect mutations in other porphyria-associated genes such as FECH; additional testing may be required
- ⚠Large genomic rearrangements beyond the detection capability of standard NGS may not be identified
- ⚠Deep intronic regulatory variants outside the targeted region may not be captured
- ⚠The clinical significance of some detected variants may remain uncertain (VUS) and may require periodic reclassification
- ⚠This test does not quantify protoporphyrin levels; biochemical testing should be performed alongside genetic analysis
- ⚠Results may not predict disease severity or clinical outcomes with certainty
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Very rare risk of infection at the blood draw site
- ●Psychological impact of genetic diagnosis on patient and family members
- ●Potential identification of variants of uncertain significance (VUS) which may cause anxiety
Interfering Factors
- ●Recent blood transfusion within the past 4 weeks may affect DNA quality or mask variant detection
- ●Hemolyzed or improperly stored blood samples may reduce DNA yield
- ●Concurrent use of certain medications may alter protoporphyrin levels but do not affect genetic test results
- ●Sample contamination during collection or transport may impact sequencing accuracy
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Frequently Asked Questions
What is the ALAS2 Gene Protoporphyria NGS Genetic Test?
Who should consider getting the ALAS2 Gene NGS Genetic Test?
What is the difference between X-linked EPP (ALAS2) and autosomal recessive EPP (FECH)?
What sample is required for the ALAS2 Gene NGS Genetic Test?
How long does it take to receive the ALAS2 Gene NGS Genetic Test results?
What does a positive result mean?
Can females be affected by ALAS2-related protoporphyria?
Is genetic testing necessary if biochemical tests already show elevated protoporphyrin?
What is the cost of the ALAS2 Gene NGS Genetic Test in India?
Is home sample collection available for this test?
Can this test be used for prenatal diagnosis or carrier screening during pregnancy?
What should I do if the test identifies a Variant of Uncertain Significance (VUS)?
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