Genetic Disorder Diagnostics

Genetic disorder diagnostics

• Preconceptual Genetics : Planning a Family ?

Couples who are

Planning a pregnancy

Individuals with a family history of genetic disorders

Those undergoing IVF

Prenatal Genetics (During Pregnancy)

Expectant parents
especially those with advanced maternal age

Abnormal ultrasound findings
or high-risk screening results.

Key Tests Facilitated

Non-Invasive Prenatal Testing (NIPT)

Coordination for diagnostic testing interpretation (Amniocentesis/CVS)

Our strength: Fast turnaround times, accuracy, and compassionate guidance during an anxious time.
Clear, Compassionate Answers During Your Pregnancy.

Neonatal Genetics (Newborn Period): “Early Detection for a Healthier Tomorrow.

All new born babies
Newborns requiring rapid screening or infants in the NICU with unexplained symptoms.

Key Tests Facilitated :
Expanded Newborn Screening

Organic acid analysis from urine

Amino acid analysis from plasma

Rapid Whole Genome/Exome Sequencing (rWGS/rWES) for critically ill infants.

Our strength: Speed, precision, and close coordination with neonatologists and pediatricians.

Postnatal & Pediatric Genetics (Childhood & Development): “diagnostic odyssey” for parents looking for answers to their child’s health challenges.

Parents of children showing developmental delays, intellectual disabilities, autism spectrum traits, or multiple congenital anomalies.

Key Tests Facilitated

• Organic acid analysis
• Amino acid analysis
• Enzyme analysis for lysosomal disorders
• Chromosomal Analysis
• Chromosomal Microarray (CMA), Whole Exome Sequencing (WES), Targeted pediatric panels or Clinical exome sequence

Adult Genetics (Hereditary Risks & Rare Diseases):
understanding the DNA for Proactive Adult Health

Adults with a strong family history of diseases, or individuals experiencing unexplained neurological, cardiac, or systemic symptoms.

Key Tests Facilitated
Hereditary Cancer Panels (BRCA1/2, Lynch Syndrome)

Hereditary Cardiomyopathy panels
Neurological panels.