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New Born Screening

Our New Born Screening Panel is a comprehensive panel that covers various genetic and metabolic disorders in newborn infants

Test Code Test name and Information (one sentence only) Clinical Significance of the Test in Clinical Practice Method
Screening for IEM (inborn errors of metabolism) To identify the congenital or inborn error of metabolism involved in newborn. GC/MS Based technology
Screening for thyroid disorders To identify thyroid disorders like congenital hypothyroidism. CLIA
CGC009 Neonatal Karyotyping (New born to 1 month old child) Chromosome analysis is the microscopic examination of chromosomes in dividing cells. Cytogenetic analysis of peripheral blood lymphocytes is performed to detect numerical or structural chromosome abnormalities. Deletions (eg, partial monosomy), duplications (eg, partial trisomy), and structural abnormalities such as translocations, inversions, and rings can be detected. These chromosomal changes may be associated with infertility, miscarriage, stillbirth, birth efects,intellectual disability,developmental delay, or abnormalities of sexual differentiation development.This test will help in etiology of multiple congenital anomalies and dysmorphism in the new-borns.Chromosome analysis is the microscopic examination of chromosomes in dividing cells. Cytogenetic analysis of peripheral blood lymphocytes is performed to detect numerical or structural chromosome abnormalities. Deletions (eg, partial monosomy), duplications (eg, partial trisomy), and structural abnormalities such as translocations, inversions, and rings can be detected. These chromosomal changes may be associated with infertility, miscarriage, stillbirth, birth efects,intellectual disability,developmental delay, or abnormalities of sexual differentiation development.This test will help in etiology of multiple congenital anomalies and dysmorphism in the new-borns. Karyotyping
MPA007 Alpha Thalassemia Testing (HBA1 and HBA2: 7 Deletions;-α3.7, -α4.2, -(α)20.5, --SEA, --MED, --FIL, --THAI) Diagnosis of alpha-thalassemia. Carrier screening for individuals from high risk populations. Confirm a clinical diagnosis of Hb Bart hydrops fetalis syndrome or hemoglobin H (HbH) disease Multiplex PCR
MPA010 Angelman Syndrome MS PCR Confirmation of diagnosis in patients suspected of having either Prader-Willi syndrome (PWS) or Angelman syndrome (AS) based on clinical assessment or previous laboratory analysis. Methylation specific PCR
MPB018 Beta Thalassemia Five common Mutation To confirm the diagnosis of a beta thalassemia or beta globinopathy especially when a definitive diagnosis cannot be made by HPLC or gel electrophoresis.For clinical symptoms of a hemoglobinopathy.For a positive family history of a beta thalassemia or hemoglobinopathy. ARMS PCR
MPD004 DRPLA Gene analysis Molecular confirmation of a diagnosis of dentatorubral-pallidoluysian atrophy (DRPLA) for symptomatic patients. Predictive testing for individuals with a family history of DRPLA and a documented expansion in the ATN1 gene in an affected family member.Molecular confirmation of a diagnosis of dentatorubral-pallidoluysian atrophy (DRPLA) for symptomatic patients. Predictive testing for individuals with a family history of DRPLA and a documented expansion in the ATN1 gene in an affected family member. PCR Sequencing
MPD005 Duchenne / Becker Muscular Dystrophy (This test is not intended for carrier detection. Thus, specimens from males only would be accepted) Males with a clinical diagnosis or symptoms of Duchenne or Becker muscular dystrophy.Individuals with previous deletion/duplication test results that do not clearly identify the breakpoints and size of the deletion or duplication Multiplex PCR
MPF005 Fragile X (FMR 1) Mutation Screen (CCG Repeats) Determination of carrier status for individuals with a family history of fragile X syndrome or X-linked mental retardation .Confirmation of a diagnosis of fragile X syndrome, fragile X tremor/ataxia syndrome, or premature ovarian failure caused by expansions in the FMR1 gene. Determination of carrier status for individuals with a family history of fragile X syndrome or X-linked mental retardation .Confirmation of a diagnosis of fragile X syndrome, fragile X tremor/ataxia syndrome, or premature ovarian failure caused by expansions in the FMR1 gene. Triplet Primed PCR / Fragment analysisTriplet Primed PCR / Fragment analysis
MPF006 Freidreichs Ataxia Mutation Analysis Mutations in the FXN gene cause Friedreich ataxia that affects the nervous system and causes movement problems. PCR
MPG001 Galactosemia (GALT) Gene Mutation Identifying mutations in individuals who test negative for the common mutations and who have a biochemical diagnosis of galactosemia or galactose-1-phosphate uridyltransferase activity levels indicative of carrier status. Identifying mutations in individuals who test negative for the common mutations and who have a biochemical diagnosis of galactosemia or galactose-1-phosphate uridyltransferase activity levels indicative of carrier status. PCR Sequencing
MPG003 Glucose-6 Phosphate Dehydrogenase (G6PD) Gene Mutations The assay is for initial screening for GP6D deficiency in high risk ethnicity. Real time PCR
MPH027 Huntington Disease Molecular Analysis (CAG Repeats) Diagnostic testing for Huntington disease.Predictive testing for Huntington disease. PCR
MPP005 PRADER- WILLI Syndrome MS PCR This test is performed for Confirmation of a clinical diagnosis of PWS. Methylation specific PCR
MPR001 RETT Syndrome DNA Sequencing (MECP2 Mutation) MECP2 gene mutations may also present as atypical Rett syndrome. MECP2 gene mutations may also present as atypical Rett syndrome. PCR-Sequencing
MCC007 Culture & Sensitivity - Aerobic Bacteria To identify the bacterial infection (majorly group B strep, enteric pathogens, gonococci & Listeria) and antibiotic sensitivity of the pathogen. When ordered along with blood culture, usefull in distinguishing neonatal meningitis and sepsis. Identifying exact pathogen and its susceptibility pattern and treating based on the same reduces morbidity for a great extent. Automated BACTEC FX Blood Culture System
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