Our ServicesClinical Exome Sequencing (CES)
Clinical Exome Sequencing for people with rare genetic disorders is rapidly becoming a common molecular diagnostic test. Clinical Exome Sequencing tests focus on the coding regions of genes associated with known clinical phenotypes, thereby reducing additional costs, increasing diagnostic accuracy, and reducing ambiguous and random results since they do not cover genomic regions not related to the disorders in the literature. This test is the largest and fastest available NGS test covering all over 4500 genes and OMIM disorders defined by Mendelian disorders.
Panels can also be conducted as small and open to variation panels within themselves by conducting as the targeted disorder group.
The main groups of Clinical Exome Sequencing Panels conducted in our organization are as follows;
- HEMATOLOGY PANELS
- GASTROENTEROLOGY PANELS
- ENDOCRINOLOGY PANELS
- DERMATOLOGY PANELS
- CARDIOLOGY PANELS
- OTORHINOLARYNGOLOGY PANELS
- OPHTHALMOLOGY PANELS
- PULMONOLOGY PANELS
- HEREDITARY CANCER PANELS
- IMMUNOLOGY PANELS
- MALFORMATION PANELS
- NEUROLOGY PANELS
- NEPHROLOGY PANELS
- METABOLIC DISORDERS PANELS
There are approximately 250 Clinical Exome Sequencing Panels in these main panel groups.
You can review our test list or contact us for further information and panel contents about the tests.
Test:
Clinical Exome Sequencing
Method:
Next Generation Sequencing
Analysis Time:
8-12 weeks
Sample Type:
Blood, bone marrow, saliva
Sample Tube:
Lavender-top tube (EDTA), antiseptic swab
Storage Conditions:
1 week at +4°C
Transportation Conditions:
Same day; at room temperature
Rejection Criteria:
Samples with hemolysis, lipemia, and icterus are not accepted.
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