Options according to your patient’s needs

Single Gene Analysis

Consider ordering genetic testing:

• When you highly suspect that the patient’s symptoms are caused by a specific gene.
• When you want to perform a vector test on a pair, one of the members is known to be a vector for a variant of a specific gene.

For example, a patient is a known carrier of cystic fibrosis, and his partner requires testing to determine his risk of developing a child with the disease.

Precision Panels

Consider ordering a precision panel testing:

• When your patient has a known or suspected clinical diagnosis and the etiology gene has been fully described and is available in one of our groups, please consider ordering a group.
• Please note that the genetic content on our panel can be customized.
• For example, patients with hypertrophic cardiomyopathy, epilepsy or retinal dystrophy.

WES (Whole Exome Sequencing)

When your patient suffers from the following conditions, please consider ordering WES:

• Complex phenotype with multiple differential diagnosis
• Genetic heterogeneous disease Suspicious genetic disease, but gene-specific testing unavailable
• If the previous genetic test cannot be diagnosed WES requires detailed clinical information.

WES can be performed on indexing patients individually or with one or two family members to improve variable filtering and interpretation.

CMA – Chromosomal Microarray

Consider ordering genetic testing:

• If an individual or fetus presents with multiple congenital anomalies that are not specific to a well identified genetic syndrome
• If a karyotype is negative and the individual’s phenotype is indicative of chromosomal aneuploidy.
• If an individual or fetus present with apparently nonsyndromic developmental delay or intellectual disabilities
• If an individual presents with autism spectrum disorders
• If a fetus is malformed or a still birth of unknown aetiology occurs