Genetic Testing for Rare Diseases
Many rare diseases have an underlying genetic cause. Genetic testing may be considered when there is a suspected inherited disorder, congenital abnormalities, developmental delay, unexplained neurological findings, multiple affected family members, or unexplained multisystem disease.
Depending on the clinical question, testing may range from targeted single-gene testing through to broader multigene panels, exome sequencing, or genome-based testing — genetic counselling can help determine the most appropriate testing strategy.
At National Path Lab (NPL), a range of genetic testing approaches is available to support the diagnostic evaluation of suspected genetic rare disease.
- Health package
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- Health package
About Genetic Testing for Rare Diseases
Causes & Risk Factors
Genetic testing for rare disease is considered based on specific clinical indications, rather than general risk factors:
• A suspected inherited disorder based on clinical presentation or family history.
• Congenital abnormalities identified at or after birth.
• Developmental delay or unexplained neurological findings.
• Multiple affected family members, suggesting a hereditary pattern.
• Unexplained multisystem disease not accounted for by common conditions.
• A previous child with a suspected or confirmed genetic condition, relevant to future pregnancy planning.
Symptoms & When to Test
Genetic testing for rare disease is indication-driven, guided by the specific clinical presentation rather than a defined symptom checklist.
• Developmental delay or regression
• Congenital physical abnormalities
• Unexplained neurological findings
• Unusual growth patterns
• Multisystem involvement not explained by common conditions
• A family pattern suggestive of an inherited condition
When Should You Consider Testing?
Testing is generally considered when clinical assessment suggests a possible genetic cause — through congenital abnormalities, developmental concerns, unexplained multisystem disease, or a suggestive family history — ideally guided by genetic counselling to select the most appropriate testing strategy.
Why Tests Are Combined
The choice between targeted single-gene testing, a multigene panel, exome sequencing, or genome-based testing depends heavily on how specific versus broad the clinical question is — a strongly suspected single condition may warrant targeted testing, while an unclear presentation with multiple possible causes may benefit from a broader panel or exome-based approach.
Chromosomal analysis is a separate but complementary tool, addressing larger structural chromosomal changes that sequencing-based methods (which primarily detect smaller sequence-level changes) may not capture, which is why the two approaches are not always interchangeable.
Because genetic testing results can have significant implications — not only for the patient but potentially for family members — genetic counselling before and after testing is considered an essential part of the process, helping ensure the right test is chosen and results are properly understood.
Tests Available at NPL
Test Code | Test | Clinical Relevance |
| Targeted Genetic Testing | Testing for a specific, previously identified or strongly suspected genetic variant. |
| Single-Gene Testing | Testing a single gene when one specific condition is strongly suspected. |
| Multigene Panels | Testing multiple genes associated with a group of related conditions or overlapping phenotypes. |
| Exome Sequencing | A broader approach sequencing the protein-coding regions of the genome, used when the diagnosis is unclear across many possible genes. |
| Genome-Based Testing | An even broader sequencing approach, used in selected appropriate clinical situations. |
| Chromosomal Analysis | Addresses larger structural chromosomal changes not captured by sequencing-based methods alone. |
Most allergy and immunology blood tests do not require fasting. However, some tests ordered at the same time may have specific preparation requirements. Please follow the instructions provided by your doctor or NPL.
Home Sample Collection
NPL offers convenient home sample collection for Genetic Testing for Rare Diseases blood tests, so you don't need to visit a lab in person.
→ Book your test online, via the NPL app, or by calling +977 1 5970147 and select a convenient time slot for home sample collection.
→ A certified and experienced NPL phlebotomist visits your home at the scheduled time, following strict hygiene and safety protocols.
→ Your sample is transported under controlled, monitored conditions to NPL's NABL ACCREDITED UNDER ISO15189:2012laboratory for processing.
→ Your digital report is delivered securely to your phone or email, along with access to download and share it as needed.
When to See a Doctor
• Suspected inherited disorder based on clinical presentation
• Congenital abnormalities requiring genetic evaluation
• Developmental delay or unexplained neurological findings
• Multiple affected family members
• Planning future pregnancy after a previous child with a genetic condition — genetic counselling is strongly recommended
Medical Disclaimer Genetic testing for rare disease should be selected based on the specific clinical indication and interpreted by a qualified geneticist or genetic counsellor together with clinical findings and family history. This content is for general information only and is not a substitute for medical advice, diagnosis, or treatment. |