Karyotype
What it is
A photograph of all 46 chromosomes.
What it detects
Extra or missing whole chromosomes and large structural rearrangements.
What it misses
Cannot see changes smaller than roughly 5–10 million base pairs.
Understanding Your Report
Your genetic report, translated.
Genetic reports are written for clinicians. This page explains what each test actually looks at, what it can find, and — just as importantly — what it cannot.
Tests Explained
Every test answers a different question.
No single genetic test detects everything. Choosing correctly is the point of the counselling appointment that precedes it.
Chromosomal Microarray
What it is
A high-resolution scan for missing or duplicated segments.
What it detects
Microdeletions and microduplications far below karyotype resolution.
What it misses
Does not detect balanced translocations or single-letter gene changes.
Whole Exome Sequencing
What it is
Reads the protein-coding portion of all genes.
What it detects
Single-gene disorders, including new (de novo) variants.
What it misses
May return variants of uncertain significance; misses deep non-coding changes.
Whole Genome Sequencing
What it is
Reads essentially the entire genome.
What it detects
Coding and many non-coding variants, plus structural changes.
What it misses
Greater interpretive complexity; usually reserved for specific situations.
Carrier Screening
What it is
Tests healthy parents for recessive gene changes.
What it detects
Carrier status for conditions such as thalassaemia, SMA and cystic fibrosis.
What it misses
Panels are finite — a negative result reduces risk but does not remove it.
Gene Panels
What it is
A curated group of genes linked to one clinical problem.
What it detects
Variants within a defined, condition-specific gene set.
What it misses
Anything outside the panel is not examined.
Prenatal Diagnostic Tests
What it is
CVS and amniocentesis, which sample fetal genetic material directly.
What it detects
Provides the sample on which the above tests are run.
What it misses
Invasive procedures, performed only when the result will guide care.
Reading The Wording
Three phrases worth understanding.
Pathogenic
The change is known to cause disease. This result is usually actionable and carries clear implications for the family.
Variant of Uncertain Significance
The change exists, but current evidence cannot say whether it causes disease. It should not, on its own, drive irreversible decisions.
Benign / Likely Benign
A normal variation in the population. It does not explain the clinical finding and needs no action.
Next Step
Bring your reports. We'll find the cause together.
Consultations at Apollo Cradle, Apollo Fertility, AIFMRG and Epic International, Hyderabad.