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Wilson disease (ATP7B) gene analysis, NGS

Genetic
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Report in 120Hrs

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Details

Genetic test for Wilson’s.

₹25,900₹37,000

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Wilson Disease (ATP7B) Gene Analysis, NGS

  • Why is it done?
    • Test Purpose: This test detects mutations in the ATP7B gene, which encodes a copper-transporting ATPase essential for copper excretion and homeostasis. It is used to confirm or establish a diagnosis of Wilson disease, a rare autosomal recessive disorder of copper metabolism.
    • Primary Indications: Suspected Wilson disease diagnosis in patients with unexplained hepatic dysfunction, neurological symptoms (tremor, dystonia, parkinsonism), behavioral changes, or Kayser-Fleischer rings; confirmation in symptomatic patients with low ceruloplasmin levels; carrier screening in asymptomatic family members of affected individuals; presymptomatic diagnosis in siblings or relatives.
    • Clinical Timing: Performed when clinical presentation and biochemical markers (low serum ceruloplasmin, elevated 24-hour urine copper, elevated non-ceruloplasmin-bound copper) suggest Wilson disease. Also used for genetic confirmation following positive screening or when diagnostic uncertainty exists after other testing.
  • Normal Range
    • Normal Result: No pathogenic mutations or variants of uncertain significance detected in the ATP7B gene. This indicates the patient likely does not have Wilson disease (assuming appropriate clinical context).
    • Positive Result: Identification of one or more pathogenic mutations in the ATP7B gene, typically two mutations (one on each allele) in affected individuals, indicating Wilson disease diagnosis confirmed.
    • Heterozygous Carrier: Detection of a single pathogenic mutation suggests carrier status (heterozygous). These individuals are unaffected but can pass the mutation to offspring.
    • Variants of Uncertain Significance (VUS): Identified variants whose pathogenic potential is unclear. These require further investigation, functional studies, or clinical correlation to determine significance.
  • Interpretation
    • Two Pathogenic Mutations (Compound Heterozygous or Homozygous): Confirms Wilson disease diagnosis. Patients with two mutations have impaired copper transport and will develop symptoms if untreated. Genotype may correlate with disease severity and phenotype (hepatic vs neurological presentation).
    • Single Mutation in Symptomatic Patient: If clinical and biochemical findings strongly suggest Wilson disease but only one mutation is identified, a second mutation may exist in a region not covered by sequencing (intronic regions, regulatory elements) or may be missed by NGS. Confirmatory testing or extended analysis may be warranted.
    • No Mutations Detected: Makes Wilson disease unlikely if suspicion is low; however, does not completely exclude it. Large deletions, insertions, or intronic mutations may not be detected by standard NGS. Consider functional studies or additional genetic testing if clinical suspicion remains high.
    • Factors Affecting Interpretation: Clinical presentation (hepatic vs neurological), family history of Wilson disease, ceruloplasmin levels, 24-hour urine copper excretion, slit-lamp findings, liver function tests, and neuroimaging findings all contribute to comprehensive interpretation. Ethnic background and reported frequency of specific mutations in populations may influence significance assessment.
    • Genotype-Phenotype Correlation: Certain mutations (e.g., H1069Q, most common in European populations) are associated with later neurological presentation, while other mutations may correlate with early hepatic disease. Genotype provides prognostic information regarding disease course and severity.
  • Associated Organs
    • Primary Organ Systems: Liver (hepatobiliary system), Central Nervous System (CNS), and Cornea. ATP7B gene mutations impair copper transport, leading to systemic copper accumulation affecting these organs primarily.
    • Hepatic Manifestations: Acute hepatitis, chronic hepatitis, cirrhosis, fulminant hepatic failure, fatty infiltration, and hepatocellular carcinoma risk. Copper accumulation in hepatocytes leads to oxidative damage and fibrosis.
    • Neurological Manifestations: Copper deposition in basal ganglia, thalamus, brainstem, and white matter causes tremor, rigidity, dystonia, ataxia, parkinsonism, spasticity, and intentional tremor. Neuropsychiatric symptoms include personality changes, depression, psychosis, cognitive decline, and behavioral disorders.
    • Ophthalmologic Manifestations: Kayser-Fleischer rings (copper deposition in Descemet's membrane of the cornea), a hallmark finding seen on slit-lamp examination in neurological Wilson disease and some hepatic presentations.
    • Associated Diseases and Conditions: Wilson disease (confirmed), Hemolytic anemia (hemolytic crises in acute hepatitis), Secondary osteoporosis and osteomalacia (copper's role in bone metabolism), Hypoparathyroidism (calcium and phosphate dysregulation), Cardiomyopathy (rare but reported), Renal tubular dysfunction.
    • Potential Complications if Untreated: Progressive liver cirrhosis and liver failure, irreversible neurological damage, hepatic encephalopathy, portal hypertension with variceal bleeding, hepatorenal syndrome, progressive neuropsychiatric deterioration, and mortality if therapy is not initiated early.
  • Follow-up Tests
    • Confirmatory and Baseline Testing: Serum ceruloplasmin level (should be low <20 mg/dL in Wilson disease), 24-hour urine copper excretion (elevated >100 µg/day typical), serum non-ceruloplasmin-bound copper, serum copper levels, and slit-lamp examination for Kayser-Fleischer rings.
    • Hepatic Monitoring: Liver function tests (ALT, AST, alkaline phosphatase, bilirubin, albumin), coagulation studies (INR/PT), liver biopsy or elastography to assess fibrosis/cirrhosis degree, abdominal ultrasound or CT to evaluate liver structure and portal hypertension, hepatitis A and B serology, and periodic screening for hepatocellular carcinoma in cirrhotic patients.
    • Neuroimaging and Neurological Assessment: Brain MRI with T1 and T2 sequences to detect basal ganglia involvement, white matter changes, and assess disease progression; neurological examination and possibly neuropsychological testing to evaluate cognitive and motor function.
    • Family Screening: Genetic testing of asymptomatic siblings to identify carriers or affected individuals; biochemical screening (ceruloplasmin, urine copper) in first-degree relatives; presymptomatic diagnosis enables early treatment initiation in carriers who inherit two mutations.
    • Monitoring During Treatment: Serial 24-hour urine copper excretion (therapeutic target typically 50-75 µg/day on chelation therapy), non-ceruloplasmin-bound copper, serum drug levels for medications (penicillamine, zinc), liver function tests every 3-6 months initially then annually, and neuroimaging periodically to assess neurological progression or improvement.
    • Additional Tests if Indicated: Bone density screening (DEXA scan) for osteoporosis risk, parathyroid function tests, calcium and phosphate levels, 24-hour urine collection for kidney function assessment, and psychiatric evaluation if neuropsychiatric symptoms are prominent.
  • Fasting Required?
    • Fasting Status: No
    • Sample Collection: Fasting is not required for ATP7B genetic testing. The test requires a blood sample for DNA extraction (typically 5-10 mL of blood in an EDTA tube) or a saliva sample, depending on laboratory protocol.
    • Medication Instructions: No medications need to be withheld for this genetic test. Patients on Wilson disease treatment (penicillamine, trientine, zinc sulfate) may continue therapy as the genetic test is not affected by current medications.
    • Patient Preparation: Minimal preparation required. Patients should inform the phlebotomist or laboratory of any known family history of Wilson disease. If submitting a saliva sample, avoid eating, drinking, or chewing gum for 30 minutes prior to collection. Standard blood draw precautions apply (comfortable seating, adequate hydration before appointment).
    • Special Considerations: Testing can be performed at any time of day. Results typically available in 1-3 weeks depending on laboratory and testing complexity. Genetic counseling is recommended before and after testing to discuss implications, inheritance patterns (autosomal recessive), and family screening recommendations.

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