Genetic Testing in Mumbai — every genetic test, one place

Double Marker Test

A first-trimester blood test that screens for Down syndrome and other chromosomal conditions, usually paired with an NT ultrasound scan.

NIPT — Expanded (All Chromosomes + Microdeletions)

A wider NIPT panel screening all 23 chromosome pairs plus common microdeletion syndromes, not just the 3 major trisomies.

NIPT (Non-Invasive Prenatal Testing)

A blood-based prenatal screen for Down syndrome and other common chromosomal conditions — no risk to the pregnancy.

Quadruple Marker Test

A second-trimester screen for Down syndrome and neural tube defects — an expanded version of the triple marker test with one extra marker for better accuracy.

Triple Marker Test

A second-trimester screening test assessing risk of Down syndrome, Edward's syndrome and neural tube defects.

AFP

AFP is a maternal serum (blood) screening test used in pregnancy. Biochemical markers in the mother's blood are combined with maternal details — and, for first-trimester tests, the NT ultrasound…

Chromosomal Microarray (Prenatal)

A higher-resolution alternative to karyotyping that can detect much smaller chromosomal changes too small for a microscope to see.

Karyotyping (Prenatal)

Chromosome analysis on a prenatal sample (amniotic fluid or CVS) — a diagnostic test, unlike NIPT or marker screening which only estimate risk.

PGT-A (Preimplantation Genetic Testing — Aneuploidy)

Screens IVF embryos for the correct number of chromosomes before transfer, to help choose the embryo most likely to succeed.

PGT-M (Preimplantation Genetic Testing — Monogenic)

Screens IVF embryos for a specific known single-gene disorder that runs in the family, before transfer.

Altum 315K+Clinical Exome Sequencing

Altum 315K+Clinical Exome Sequencing is a chromosomal microarray (CMA) test — Lilac Insights' Altum range. It scans the whole genome for missing or extra pieces of DNA (copy-number changes) that…

Altum 315K+Fish Chromosomes 13,18,21,X,Y

Altum 315K+Fish Chromosomes 13,18,21,X,Y is a chromosomal microarray (CMA) test — Lilac Insights' Altum range.

CMV PCR Postnatal

CMV PCR Postnatal is a PCR test that detects the DNA of infections which can harm an unborn baby (toxoplasma, rubella, cytomegalovirus, herpes and similar).

CMV Toxoplasma PCR

CMV Toxoplasma PCR is a PCR test that detects the DNA of infections which can harm an unborn baby (toxoplasma, rubella, cytomegalovirus, herpes and similar).

CMV-PCR

CMV-PCR is a PCR test that detects the DNA of infections which can harm an unborn baby (toxoplasma, rubella, cytomegalovirus, herpes and similar).

ConcepT

ConcepT is Lilac Insights' products-of-conception (POC) test. After an early pregnancy loss, tissue from the pregnancy is tested to see whether a chromosomal abnormality caused it.

HSV-PCR

HSV-PCR is a PCR test that detects the DNA of infections which can harm an unborn baby (toxoplasma, rubella, cytomegalovirus, herpes and similar).

Infertility Panel For Male

Infertility Panel For Male is a genetic test used to look for an inherited cause of infertility or recurrent pregnancy loss — for example Y-chromosome microdeletions or other gene changes in men…

G6PD Deficiency Screening

Checks for G6PD enzyme deficiency, a common inherited condition that can cause serious jaundice or anaemia in newborns triggered by certain foods, infections or medicines.

Newborn Screening Panel

Early screening for treatable congenital disorders in newborns — thyroid, metabolic and enzyme conditions.

3A & 3B Enzyme Assay

3A & 3B Enzyme Assay is an enzyme or biochemical test used to diagnose a specific inherited metabolic condition, such as a lysosomal storage disorder (for example Gaucher disease, Pompe disease or…

Acid Lipase(Wolman Disease)

Acid Lipase(Wolman Disease) is an enzyme or biochemical test used to diagnose a specific inherited metabolic condition, such as a lysosomal storage disorder (for example Gaucher disease, Pompe…

ADA2 Enzyme Assay For Polyarteritis Nodosa

ADA2 Enzyme Assay For Polyarteritis Nodosa is an enzyme or biochemical test used to diagnose a specific inherited metabolic condition, such as a lysosomal storage disorder (for example Gaucher…

Advance Metabolic Package

Advance Metabolic Package is a newborn / metabolic screening test used to detect inborn errors of metabolism — rare inherited conditions in which the body cannot process certain nutrients properly.

Clinical Exome Sequencing (CES)

A focused version of exome sequencing, analysing the ~5,000 genes with well-established links to known genetic diseases — faster and more affordable than the full exome.

Karyotyping (Blood)

Examines the number and structure of your chromosomes under a microscope — used to diagnose chromosomal conditions like Down syndrome, or investigate infertility and recurrent miscarriage.

Whole Exome Sequencing (WES)

Reads the protein-coding portion of your entire genome (~20,000 genes) — the broadest single test for diagnosing an unexplained genetic condition.

Whole Genome Sequencing (WGS)

Reads essentially all of your DNA, coding and non-coding — the most complete genetic test available, used when exome sequencing hasn't found an answer.

Autopsy Panel (With CES)

Autopsy Panel (With CES) analyses the roughly 5,000 genes with established links to inherited disease — a focused alternative to whole exome sequencing.

C Banding

C Banding is a chromosome analysis (karyotype). Cells from a blood sample are grown, and the number and structure of all 46 chromosomes are examined under the microscope to find extra, missing or…

Congenital Adrenal Hyperplasia (CAH) Gene Analysis

Checks the CYP21A2 gene for mutations that cause Congenital Adrenal Hyperplasia, a condition often first picked up on newborn screening.

Cystic Fibrosis (CFTR) Gene Testing

Checks the CFTR gene for mutations that cause Cystic Fibrosis, an inherited condition mainly affecting the lungs and digestion.

Fragile X Syndrome Testing

Checks for the FMR1 gene change that causes Fragile X syndrome, the most common inherited cause of intellectual disability.

Spinal Muscular Atrophy (SMA) Testing

Checks for the SMN1 gene deletion that causes Spinal Muscular Atrophy, a serious inherited condition affecting muscle strength and movement.

Achondroplasia (FGFR3) Mutations Analysis By NGS-Individual

Achondroplasia (FGFR3) Mutations Analysis By NGS-Individual is a targeted genetic test. Instead of reading every gene, it looks at the one gene — or the group of genes — linked to the specific…

Albinism Gene Panel

Albinism Gene Panel is a targeted genetic test. Instead of reading every gene, it looks at the one gene — or the group of genes — linked to the specific inherited condition that a doctor suspects…

Alpha Thalassemia Mutation Analysis

A definitive genetic test for alpha thalassemia — confirms the diagnosis and specific gene deletion/mutation, beyond what a routine HPLC screen shows.

Beta Thalassemia Mutation Analysis

A definitive genetic test for beta thalassemia — confirms the diagnosis and specific gene mutation, important for family planning and genetic counselling.

Carrier Screening — Expanded Panel (NGS)

A much wider carrier screen (hundreds of genes by NGS) for couples planning a pregnancy who want the most thorough check available.

Carrier Screening — Focused Panel

Checks whether you carry (without symptoms yourself) a gene change for common inherited conditions that could affect your children.

Alpha Globin Gene Sequencing-Individual

Alpha Globin Gene Sequencing-Individual is a molecular test for inherited blood-haemoglobin disorders such as thalassemia and sickle-cell disease.

Alpha Thalassemia Common Mutations- (Individual)

Alpha Thalassemia Common Mutations- (Individual) is a molecular test for inherited blood-haemoglobin disorders such as thalassemia and sickle-cell disease.

BRCA1 & BRCA2 Gene Analysis

Checks for inherited BRCA1/BRCA2 gene changes linked to a significantly higher lifetime risk of breast and ovarian cancer.

Hereditary Cancer Gene Panel

A broader multi-gene panel (beyond just BRCA1/2) screening for inherited mutations linked to several hereditary cancer syndromes at once.

Basal Cell Nervous Syndrome(Germline) By NGS

Basal Cell Nervous Syndrome(Germline) By NGS is a germline (inherited) cancer-risk gene test. It looks in a blood sample for harmful changes in genes such as BRCA1 and BRCA2 that raise the…

BRCA1 & BRCA2 Mutation Analysis By NGS

BRCA1 & BRCA2 Mutation Analysis By NGS is a germline (inherited) cancer-risk gene test. It looks in a blood sample for harmful changes in genes such as BRCA1 and BRCA2 that raise the lifetime risk…

BRCA1,BRCA2 Del/Dup By MLPA

BRCA1,BRCA2 Del/Dup By MLPA is a germline (inherited) cancer-risk gene test. It looks in a blood sample for harmful changes in genes such as BRCA1 and BRCA2 that raise the lifetime risk of cancers…

BRCA1,BRCA2 On FFPE Block

BRCA1,BRCA2 On FFPE Block is a specialised cancer-diagnostic test used in inherited cancer risk. This test examines a patient sample for features that help diagnose, classify or monitor a cancer.