For Clinical Health Providers:
The eKaryotype 3000 test is a genetic test designed to aid in the diagnosis of intellectual disability (mental retardation), developmental delay, multiple congenital anomaly or autism spectrum disorders in suspected individuals via detection of chromosomal aberrations in post-natal buccal samples:
eKaryotype 3000 may be indicated for screening of couples who who have experienced a loss of pregnancy (miscarriage or stillbirth) or have difficulty in getting pregnant while under the care of their IVF physician.
Syndrome | Definition | Incidence |
Intellectual Disability | Intellectual Disability (ID) formally refered to as Mental Retardation (MR) is defined by the World Health Organization based on tests of intelligence (IQ tests). An IQ score of less than 70 is considered MR. MR can be divided into types: mild (IQ 50-70), moderate (IQ 35-50), severe (20-35), and profound (<20). | About 1% to 3% of people have ID. Mild ID is much more common than moderate or severe ID. |
Developmental Delay | Developmental delay (DD) happens when a young child has a lag or slowness in reaching milestones like sitting, walking, and talking compared to other children the same age. Delays can be in only one area – like talking, thinking, moving, or interacting. They can also be more "global," affecting more than one set of skills. DD is usually used for children under 5 years old. | About 1% to 3% of children have DD. Some children with DD will have mental retardation, while others will "catch up" to their peers and have typical learning later in childhood. |
Multiple Congenital Anomaly | Infants with multiple congenital anomalies (MCA) are typically infants with:
two or more major malformations (e.g., a neural tube defect, cardiac defect, missing limb), or three or more minor malformations (e.g., syndactly, a club foot, abnormally formed pinnae). Common abnormalities include cardiac defects, cleft lip/cleft palette, neural tube defects, musculoskeletal defects, abnormalities of the eye, and gastrointestinal or genitourinary defects. | Birth defects affect 3 to 5% of all newborns in the United States; 1% of newborns have multiple defects or
syndromes. Approximately 40-60% of congenital malformations have no known origin. About 20% of birth defects are
likely to result from genetic and environmental factors combined.
7.5% are caused by single gene mutations. 6% are caused by chromosome abnormalities. 5% are caused by maternal illness and/or substance use. |
Autism Sprectrum Disorder | Autism and autism spectrum disorders (ASD) are a group of conditions defined by difficulties with social interaction, communication, and unusual behaviors. There is a wide range of how a person can be affected with an autistic disorder. The spectrum includes people with autism, Asperger syndrome, and pervasive developmental delay (PDD). | About 1% to 3% of children are born with ASD. |
For Patients and Family Members:
The eKaryotype 3000 is a genetic test uses the latest next-generation DNA sequencing technology. This test will not cure the clinical syndromes in your family member, however it will provide additional useful information to help you understand and manage the syndromes more effectively. Only your physician can request this test for your family member.
Below are a few examples how the additonal information obtained from the eKaryotype 3000 test could be helpful:
- It can provide a clear answer (i.e. diagnsosis) about why the person has the signs and symptoms displayed by the individual
- Gives you and your doctor useful information about what to expect in the future as the syndromes progress and evolve
- Helps you to be aware and possibly prevent other more potentially dangerous conditions
- Give you accurate information about the chances (i.e. probability) of having another affected child
- Explains why a pregnancy loss occured opening up alternative options that could be explored as a result of the new genetic information.
- Family members can be tested as well to obtain a better understanding of the family's inherited genetic diseases and predispositions
- Allows you to connect with other families and get support services from schools and community
Disclaim: The eKaryotype 3000 is a lab developed test (LDT) offered only in our CMS regulated, high-complexity CLIA laboratory. LDT tests are not evaluated by the FDA.
