Both parents also need to attend an appointment to give a sample.
Who is it for?
- Developmental delay, congenital anomalies and suspected rare disease
Technical details
- Coverage
- Whole exome (3 people)
- Method
- Whole exome sequencing (NGS)
- Sample
- Blood in EDTA tubes (2 × 3 ml)
- Turnaround time
- 6 weeks
- Output
- Clinical report + FASTQ, VCF
How does the process work?
- 1Leave your request
Choose the test, or let your physician request it on your behalf. If you are not sure which test fits, we decide together.
- 2We call you
Our team calls within 1 working day to confirm the request, the sample type (blood or tumour tissue) and your appointment time.
- 3Sample collection
A blood sample is taken at Akasya Partner Clinics in a few minutes. For tissue tests, the pathology block is collected by courier.
- 4Report and review
The report is ready in 1–6 weeks depending on the test (stated on each test page), sent to your physician and reviewed with our consultant physicians.
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