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Rett Syndrome MECP2 Detection, EDTA Blood

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Genetic test for MECP2.

₹12,580₹17,971

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Rett Syndrome MECP2 Detection EDTA Blood - Comprehensive Medical Test Guide

  • Why is it done?
    • This test detects mutations in the MECP2 gene (methyl-CpG-binding protein 2) located on the X chromosome, which are responsible for Rett Syndrome, a rare but severe neurological disorder.
    • Primary indications for ordering:
    • Suspected Rett Syndrome in individuals with developmental regression, particularly in females aged 6-18 months with normal early development followed by loss of purposeful hand skills and social engagement
    • Confirmation of clinical diagnosis in patients meeting Rett Syndrome diagnostic criteria (loss of developmentally purposeful hand skills, loss of social engagement, gait abnormalities, seizures, and developmental plateau)
    • Males with severe neonatal or infantile encephalopathy and developmental impairment suggestive of hemizygous MECP2 mutations
    • Genetic counseling and family planning for parents or relatives of confirmed MECP2 mutation carriers
    • Atypical presentations including Rett-related disorders: infantile spasms, Zn-finger disorders, or preserved speech variant
    • Typical timing:
    • Testing is performed when clinical features suggest Rett Syndrome, typically between 6 months and 3 years of age when developmental regression becomes apparent
    • Can be performed at any age to confirm suspected diagnosis or for genetic counseling purposes
  • Normal Range
    • Reference/Normal Result:
    • No mutation detected in the MECP2 gene - indicates the MECP2 gene sequence is normal with no pathogenic variants identified
    • Abnormal Result:
    • Pathogenic mutation detected in MECP2 gene (various types including point mutations, deletions, duplications, or insertions) - confirms diagnosis of Rett Syndrome or related disorder
    • Units of Measurement:
    • Qualitative analysis: Presence or absence of mutations; specific mutation nomenclature (e.g., c.1076C>T p.Arg359Ter)
    • Interpretation Guidelines:
    • Negative result: No pathogenic MECP2 mutations found - rules out classic Rett Syndrome; however, Rett-related disorders or other genetic conditions should be considered if clinical suspicion remains high
    • Positive result: Pathogenic mutation confirms Rett Syndrome diagnosis; severity correlates with mutation type (truncating mutations typically more severe than missense mutations)
    • Variants of uncertain significance (VUS): Requires further analysis, clinical correlation, and family studies for proper classification
  • Interpretation
    • Detailed Result Interpretation:
    • Classic Rett Syndrome with Pathogenic MECP2 Mutation:
    • Severe developmental regression after 6-18 months of normal development; loss of purposeful hand skills replaced by stereotyped hand movements; loss of social engagement; communication regression
    • Truncating mutations (nonsense, frameshift): Associated with severe phenotype, earlier regression onset, more profound impairment
    • Missense mutations: Often associate with milder phenotype, later regression onset, preserved speech variant
    • Atypical Rett Syndrome with Specific MECP2 Mutations:
    • Early infantile encephalopathy and epilepsy phenotype: Often associated with mutations in specific functional domains; males more severely affected
    • Preserved speech variant: Residual language abilities retained; usually associated with specific missense mutations
    • Factors Affecting Interpretation:
    • X-inactivation patterns in heterozygous females: Affects phenotype severity; skewed inactivation may result in milder or more severe manifestations
    • De novo vs. inherited mutations: Most cases (>99%) are de novo; inherited mutations from carrier mothers carry 50% transmission risk
    • Mosaicism: Somatic mosaicism in either parent or individual may result in milder phenotype or variable presentation
    • Hemizygous males: Typically present with severe early infantile encephalopathy and often do not survive to childhood
    • Clinical Significance of Various Result Patterns:
    • No mutation found with classic clinical features: Consider atypical variants, mosaicism (repeat testing with alternate specimens), or alternative diagnoses
    • Mutation identified with atypical features: Emphasizes phenotypic variability; genotype-phenotype correlations imperfect
  • Associated Organs
    • Primary Organ Systems Involved:
    • Central Nervous System (CNS): MECP2 mutations primarily affect brain development and function; abnormalities seen throughout cortex, subcortical structures, and brainstem
    • Peripheral Nervous System: Autonomic dysfunction, abnormal pain perception, irregular breathing patterns
    • Medical Conditions Associated with MECP2 Mutations:
    • Classic Rett Syndrome: Most common clinical presentation; severe developmental regression with characteristic features
    • Atypical Rett Syndrome variants: Preserved speech variant, early infantile encephalopathy with infantile spasms, congenital variant
    • Neonatal Encephalopathy: Severe presentations in males or rare hemizygous females
    • Infantile Spasms (West Syndrome): Seizure disorder with developmental impairment; associated with specific MECP2 mutations
    • Zn-Finger Associated Encephalopathy: Specific mutations in zinc-finger domains produce distinct phenotype
    • Diseases Diagnosed or Monitored:
    • Rett Syndrome: X-linked dominant neurological disorder causing severe developmental impairment
    • Autism Spectrum Disorder: Some MECP2 mutations present with autism features or overlap with autism diagnosis
    • Intellectual Disability: Primary feature of Rett Syndrome and related disorders
    • Potential Complications from Abnormal Results:
    • Severe Seizure Disorders: Intractable epilepsy in 60-80% of individuals with Rett Syndrome; high risk of status epilepticus and SUDEP (Sudden Unexpected Nocturnal Death in Epilepsy)
    • Respiratory Dysfunction: Abnormal breathing patterns, apnea episodes, hyperventilation periods; high morbidity and mortality risk
    • Cardiac Abnormalities: QT prolongation on ECG, heart rate variability abnormalities, sudden cardiac death risk
    • Gastrointestinal Complications: Severe constipation, gastroesophageal reflux, feeding difficulties, dysphagia
    • Orthopedic Issues: Scoliosis, dystonia, spasticity requiring surgical intervention
    • Growth Failure: Inadequate nutrition and metabolic dysfunction leading to failure to thrive
  • Follow-up Tests
    • Tests Recommended Based on Positive Results:
    • Electroencephalography (EEG): Assess seizure activity, identify seizure types, monitor for subclinical seizures or status epilepticus
    • Brain Imaging (MRI/CT): Evaluate for structural brain abnormalities, document degree of brain atrophy and white matter changes
    • Electrocardiography (ECG): Screen for QT prolongation and cardiac conduction abnormalities that increase sudden death risk
    • Echocardiography: Assess cardiac structure and function, evaluate for cardiomyopathy or valve abnormalities
    • Genetic Counseling: Provide information about inheritance patterns, recurrence risks, reproductive options for family members
    • Parental Molecular Testing: Determine if mutation is de novo or inherited; assess carrier status of parents for counseling
    • Further Investigations if Initial Test Negative:
    • Repeat MECP2 sequencing with enhanced detection: May identify mosaicism not detected on initial testing
    • MECP2 Gene Dosage Analysis (multiplex ligation-dependent probe amplification - MLPA): Detect large deletions or duplications not identified by sequencing
    • X-inactivation Pattern Analysis: Determine pattern in carrier females, evaluate for skewed inactivation correlating with phenotype
    • Expanded Genetic Panel: Test related genes if clinical picture compatible with other genetic encephalopathies (CDKL5, ARX, SYN1)
    • Whole Exome Sequencing (WES) or Whole Genome Sequencing (WGS): Comprehensive approach if diagnosis remains unclear
    • Monitoring Frequency for Confirmed Cases:
    • Clinical Assessment: Every 3-6 months to monitor disease progression, medication efficacy, development of new complications
    • EEG Monitoring: Annually or as clinically indicated; more frequent if seizure control inadequate
    • Cardiac Monitoring: ECG annually; Holter or extended monitoring if QT prolongation present
    • Growth and Nutrition: Track growth parameters, assess nutritional status, monitor feeding tolerance
    • Orthopaedic Assessment: Periodic imaging to assess scoliosis progression; surgical evaluation if necessary
    • Related Complementary Tests:
    • CDKL5 Gene Testing: For early infantile epileptic encephalopathy presentations; often tested alongside MECP2
    • ARX Gene Testing: If developmental regression with infantile spasms and preserved speech variant features
    • Metabolic Workup: Amino acid and organic acid analysis if metabolic disease cannot be ruled out clinically
  • Fasting Required?
    • Fasting Requirement:
    • No
    • Explanation:
    • This is a genetic test requiring DNA analysis; fasting does not affect DNA extraction or sequencing results. Patient can eat and drink normally before specimen collection.
    • Specimen Collection Requirements:
    • EDTA (ethylenediaminetetraacetic acid) blood tube (lavender top): Required for genomic DNA extraction
    • Volume: Typically 3-5 mL of whole blood, depending on laboratory requirements
    • Collection: Standard venipuncture technique; no special timing or positioning required
    • Special Instructions:
    • Specimen labeling: Ensure proper patient identification on EDTA tube with name, date of birth, date and time of collection
    • Transportation: Blood should be kept at room temperature; refrigeration or freezing not necessary
    • Timing: Send to laboratory within 2-3 days of collection; samples remain viable for DNA extraction for several weeks
    • Medications to Avoid:
    • None: No medications need to be discontinued for this genetic test. All current medications should be continued as prescribed by healthcare provider.
    • Other Patient Preparation:
    • Informed consent: Genetic testing requires informed consent; counseling about privacy, implications, and findings interpretation recommended
    • Genetic counselor consultation: Beneficial prior to testing to discuss inheritance patterns, test limitations, and management options
    • Specimen integrity: Ensure proper needle-stick technique; hemolyzed or contaminated samples may affect DNA quality
    • Alternative specimens: If blood cannot be obtained, saliva or other tissues may be acceptable; consult laboratory for specific requirements

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