Molecular Diagnostics, Genetics And Genomic Testing Services

Molecular diagnostics, genetics and genomic testing services

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Molecular diagnostics, genetics and genomic testing services and genetic counseling:

We offer state-of-the art molecular diagnostics, genetic and genomic testing services across infectious diseases, oncology and genetic disorders as well as genetic counseling services through our sibling organization – GenePath Diagnostics, an NABL-approved laboratory with PCPNDT registration. A comprehensive list of tests performed and services provided are available on GenePath’s website. Some commonly requested tests for pediatrics, pediatric endocrinology and ObGyn are:

  1. Infectious disease testing e.g. Respiratory diseases (Covid-19, Influenza), monsoon-related fevers (Chikungunya, Dengue, Zika, Malaria), Tuberculosis (GeneXpert), Meningitis (BioFire), blood-borne infections (HIV, HBV, HCV) and ToRCH infections for ObGyn.
  2. Oncology testing e.g. cervical cancer screening through HPV DNA testing, and hereditary breast and ovarian cancer (HBOC) predictive testing through next generation sequencing (NGS).
  3. Testing for genetic disorders and other advanced genetic tests including karyotyping, FISH, cytogenetic microarrays (CMA) and whole exomes by next generation sequencing (NGS). Specialized tests for pediatric disorders like ambiguous genitalia/ intersex disorders, congenital adrenal hyperplasia, Prader-Willi syndrome, monogenic obesity, neonatal diabetes mellitus and thalassemia.
  4. Prenatal testing and screening e.g. noninvasive prenatal testing/ screening (NIPT) for aneuploidies, targeted genetic tests for conditions like beta .Thalassemia and congenital adrenal hyperplasia (CAH) from CVS and amniotic fluid samples.
  5. Newborn screening e.g. testing of newborns for presence of actionable inherited disorders like phenylketonuria (PKU), congenital hypothyroidism (CH TSH), biotinidase deficiency (BTD), cystic fibrosis (CF IRT), congenital adrenal hyperplasia (CAH 17-OHP) by analysis of a dried blood spot (DBS) sample collected through a heel-prick.

Sample collection and counseling services can be carried out at Phadke Hospital. For more details, please visit https://www.genepathdx.com