Whole Exome Family Trio

Test Code

13519

Preferred Specimen

**This test is not available for New York patient testing**
Patient Preparation:
Do not eat, drink, smoke or chew gum 30 minutes prior to
saliva or buccal swab collection
Collection Instructions:
Saliva: Fill saliva up to the fill to line using one of the
following Oragene-Dx collection kits: OG-500/OGD-500;
OG-510/OGD-510; OG-575/OGD-575
Buccal: Buccal swab collected in Oragene-Dx collection kit:
OCD-100/OCD-100A
Note: Extracted DNA is accepted. Please contact the
laboratory Genetic Counselor at 1-866-GENEINFO
(866-436-3463) prior to submission of sample.
Reject Criteria:
Hemolysis
PREFERRED
5 mL whole blood (L, lavender-top tube, EDTA), room
temperature
Minimum: 1 mL
RT: 10 days
Refrigerated (cold packs): 10 days
Frozen: Unacceptable
--or--
2 mL saliva collected in an Oragene-Dx collection kit, room
temperature
Minimum: 2 mL
RT: 15 days
Refrigerated (cold packs): 15 days
Frozen: Unacceptable
--or--
1 buccal swab collected in an Oragene-Dx collection kit,
room temperature
Minimum: 1 swab
RT: 15 days
Refrigerated (cold packs): Unacceptable
Frozen: Unacceptable

Minimum Volume

Buccal Swab 1
Saliva 2 mL
Whole Blood 1 mL

Transport Container

Buccal Swab
__ Oragene-Dx collection kit
Saliva
__ Oragene-Dx collection kit
Whole Blood
__ EDTA(lavender-top)

Transport Temperature

Room Temperature

Specimen Stability

Buccal Swab
__Room Temperature: 15 days
__Refrigerated: Unacceptable
__Frozen: Unacceptable
Saliva
__Room Temperature: 15 days
__Refrigerated: 15 days
__Frozen: Unacceptable
Whole Blood
__Room Temperature: 10 days
__Refrigerated: 10 days
__Frozen: Unacceptable

Methodology
Next Generation Sequencing Droplet Digital Polymerase Chain Reaction (ddPCR)

Setup Schedule

Friday Morning
Report available: 43 Days

Reference Range

See Laboratory Report

Clinical Significance

Whole Exome Family Trio includes high-quality whole exome
sequence analysis of an index patient and parents or
other family member, coupled with whole exome
deletion/duplication analysis. Whole Exome Trio Plus is
an essential tool for detecting de novo mutations and
copy number variants, which underlie many of the
early-onset diseases.
Whole Exome Sequencing (WES) is a robust and one of the
most comprehensive genetic tests for identifying the
disease-causing changes in a large variety of genetic
disorders.
In WES, protein-coding regions of all genes
(approximately 20,000) of the human genome, known as the
exome, are sequenced using next-generation sequencing
technologies. While the exome constitutes only
approximately 1% of the whole genome, 85% of all
disease-causing mutations are located there.
Indeed, WES has not only been successful in the
identification of new disease genes but is also a
powerful method in clinical settings to identify the
molecular basis of genetic disorders across various
medical specialties.
The diagnostic yield of WES is higher than some
traditional gene diagnostic methods. A definite diagnosis
is typically obtained in 20% to 60% of cases, depending
on the medical specialty, with severe, early-onset
disorders having the highest diagnostic rates (The
Deciphering Developmental Disorders Study 2014 Nature;
Farwell et al. 2015 Genetics in Medicine; Stark et al.
2016 Genetics in Medicine).
WES is most suitable for individuals with:
1. A complex, unspecific genetic disorder with multiple
differential diagnoses
2. A genetically heterogeneous disorder
3. A suspected genetic disorder where a specific genetic
test is not available
4. Unsuccessful previous genetic testing

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.