Ordering Guidance

The American College of Medical Genetics and Genomics recommends that whole genome sequencing be considered as a first-tier or second-tier test for patients with one or more congenital anomalies, or developmental delay or intellectual disability with onset prior to age 18 years.(1)

If a specific diagnosis is suspected, single gene or panel testing may be a more appropriate first-tier testing option.

This test is for affected patients (probands) only. For family member specimens being sent as comparators, order CMPRG / Family Member Comparator Specimen for Genome Sequencing, Varies. If this test is ordered on a family member comparator, this test will be canceled and CMPRG performed as the appropriate test.

This test is not appropriate for identification of somatic variants in solid tumors or other malignancies. Multiple oncology (cancer) gene panels are available. For more information see Oncology Somatic NGS Testing Guide. If testing for other malignancies is needed, contact the laboratory for test selection guidance.

This testing does not provide genotyping of patients for pharmacogenomic purposes. For an assessment for genes with strong drug-gene associations, order PGXQP / Focused Pharmacogenomics Panel, Varies.

Targeted testing for familial variants (also called site-specific or known variant testing) is available for variants identified by this test. See FMTT / Familial Mutation, Targeted Testing, Varies.

Prenatal specimens (amniocentesis or chorionic villi) are not currently accepted for this test.

Additional Testing Requirements

To order whole genome sequencing for the patient and the family member comparator specimens, see the following steps:

1. Order this test (WGSDX) on the patient (proband).

2. Order CMPRG / Family Member Comparator Specimen for Genome Sequencing, Varies on all family members' specimens being submitted as comparators.

 a. When available, the patient's biological mother and biological father are the preferred family member comparators.

 b. If one or both of the patient's biological parents are not available for testing, specimens from other first-degree relatives (siblings or children) can be used as comparators. Testing typically includes up to two family member comparators. Contact the laboratory at 800-533-1710 for approval to send specimens from other relatives or to send the patient and three first-degree relatives (quad).

 c. The cost of analysis for family member comparator specimens is applied to the patient's (proband's) test. Family members will not be charged separately.

3. Collect patient (proband) and family member specimens. Label specimens with full name and birthdate. Do not label family members' specimens with the proband's name.

4. For each family, complete the following portions of the Whole Genome Sequencing: Ordering Checklist. A separate form is not needed for each family member.

 a. Patient Information is required for all clients

 b. Informed Consent is required for New York State clients

 c. If the patient wishes to opt-out of receiving secondary findings or change the DNA storage selection, select the appropriate boxes in the Informed Consent section.

5. Attach clinic notes from specialists relevant to patient's clinical features, if available.

6. Attach pedigree, if available.

7. Send paperwork to the laboratory along with the specimens. If not sent with the specimens, fax a copy of the paperwork to 507-284-1759, Attn: WGS Genetic Counselors.

For more information see Whole Genome Sequencing (WGS): Questions and Answers for Providers.

Shipping Instructions

Specimen preferred to arrive within 96 hours of collection.

Necessary Information

Whole Genome Sequencing: Ordering Checklist is required for all patient, and Informed Consent is required for New York clients. Fill out one form for the family and send with the specimens.

Specimen Required

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Additional Information: If a cord blood specimen is received, MATCC / Maternal Cell Contamination, Molecular Analysis, Varies will be performed at an additional charge; maternal blood sample is required.