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Whole Exome Sequencing
Clinical Genetic Test
Help
offered by
Genetics and Genomic Medicine Centre
View lab's test page
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GTR Test Accession: Help GTR000595969.1
INHERITED DISEASENERVOUS SYSTEMDYSMORPHOLOGY ... View more
Last updated in GTR: 2021-09-11
View version history
Last annual review date for the lab: 2024-08-29 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (29): Help
Cardiofacioneurodevelopmental syndrome; Cataract 11 with microphthalmia and neurodevelopmental abnormalities; Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities more...
Chromosomal regions/ Mitochondria (1): Help
All coding region of the human genome
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
All types of disease patients
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Genetics and Genomic Medicine Centre
View lab's website
View lab's test page
Test short name: Help
WES
Manufacturer's name: Help
Twist human core exome sequencing
Specimen Source: Help
  • Amniotic fluid
  • Buccal swab
  • Chorionic villi
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • Saliva
Who can order: Help
  • Health Care Provider
Test Order Code: Help
013
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Upon physician/health care providers recommendation Patient have to come to Neurogen or relevant sample can be sent to Neurogen through FeDex, DHL or other suitable means along with the copy of test recommendation. Patient/ parent have to fill out the patient information form and sign consent form. If the patient …
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Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom mutation-specific/Carrier testing
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 29
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
NovaSeq 6000
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
All types of disease patients
View citations (1)
  • Akter H, Hossain MS, Dity NJ, Rahaman MA, Furkan Uddin KM, Nassir N, Begum G, Hameid RA, Islam MS, Tusty TA, Basiruzzaman M, Sarkar S, Islam M, Jahan S, Lim ET, Woodbury-Smith M, Stavropoulos DJ, O'Rielly DD, Berdeiv BK, Nurun Nabi AHM, Ahsan MN, Scherer SW, Uddin M. Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh. NPJ Genom Med. 2021;6(1):14. doi:10.1038/s41525-021-00173-0. Epub 2021 Feb 16. PMID: 33594065.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
NeuroGen follows ACMG guideline

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Clinical validity, Clinical utility, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Platform:
Twist Human Core Exome Sequencing
Availability: Help
Tests performed
Entire test performed in-house
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed in-house
Analytical Validity: Help
Accuracy and specificity>99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
VUS:
Software used to interpret novel variations Help
GenomeArc, ANNOVAR

Laboratory's policy on reporting novel variations Help
The lab explains the report to patient/ Parent during report delivery. The refering doctor is als informed in case of novel variation. The report is send either through email or in person
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information
Consumer resources:

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