Invitae pediatric developmental diagnostic testing

The path to better health starts with early answers

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Genetic testing provides answers

Determine whether a child’s developmental challenges are due to a condition caused by a chromosome abnormality. Microarray testing identifies extra or missing chromosomal information in about 15-20% of children with developmental delays and/or birth defects.1

What can Invitae’s microarray analysis for pediatric developmental disorders detect?

  • Size and gene content of copy number variations (CNVs)

  • Regions of homozygosity, which may suggest shared ancestry and an increased risk for autosomal recessive disorders

  • Uniparental disomy, which can indicate an imprinting disorder

When should I order pediatric microarray testing for my patients?

The American College of Medical Genetics,2 American Academy of Pediatrics,3 and the American Academy of Neurology4 all recommend chromosomal microarray testing for individuals with one or more of the following:

  • Developmental delays or intellectual disability

  • Congenital anomalies

  • Dysmorphic features

  • Autism and autism spectrum disorders

  • Other potential disorders such as seizures and ADHD

Why is pediatric microarray testing preferred to a karyotype test?

  • Recommended by the American College of Medical Genetics as a first-tier test in lieu of high-resolution karyotyping

  • Doubles the detection rate of chromosomal disorders compared to high-resolution karyotyping and subtelomere FISH combined

  • Higher resolution than karyotyping

  • More comprehensive than karyotyping, which helps prevent unnecessary testing

How long does it take to get results?

  • Microarray results are typically available in 10-12 days, on average, from the time samples are received by Invitae’s lab.

  • G-banded karyotype results are typically available in 12 days, on average, from the time samples are received by Invitae’s lab.

Why choose Invitae’s pediatric diagnostic microarray?

Superior coverage

Invitae technology provides superior clinically focused, genome-wide coverage.

Comprehensive reports

Invitae’s reports include references to assist in patient counseling and tools for evaluating non-copy number related abnormalities, such as regions of homozygosity.

Expert interpretation

Invitae’s laboratory directors have decades of experience in interpreting microarray results and can assist you in understanding complex results.

Invitae offers buccal swab sample collection

In cases where it is not possible to collect enough blood for an adequate sample, you can opt to collect DNA from the cells on the inside of your patient’s cheek. Please note that buccal swab sample collection is offered for microarray testing only.

Buccal swab collection:

  • Allows clinicians without in-house phlebotomy services to collect samples in-office

  • Frees patients from making a second trip to an off-site draw station

  • Provides patients who are unable to give a blood sample a more comfortable alternative

  • Makes genetic testing more accessible to general practitioners, pediatricians, child neurologists, behavioral pediatricians, and other office-based physicians

The Invitae advantage

We make billing simple so you can take care of your patients

Invitae is proud to be in-network for more than 250 million patients, and offer a financial assistance program for patients without coverage.

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Hands-on clinical support for clinicians and patients

Invitae’s board-certified genetic counselors provide peer support for clinicians and post-test counseling for parents at no additional charge.

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Get started

Follow these easy steps to get started with Invitae:

Request a free specimen collection kit online.

Order a test using a paper test requisition form.

  • Call Clinical Consult at 800-436-3037 if you would like to review patient cases or differentiate between testing options.

  • Parents of patients can also contact Client Services at clientservices@invitae.com for billing and insurance-related questions.

Receive a comprehensive results report

  • If you have questions about results or their clinical implications, our genetic counselors are available to discuss.

Resources

Additional tests

Invitae offers a comprehensive test menu that delivers actionable insights for all your patients, whether they are considering pregnancy, pregnant, or already parents.

Proactive cancer screening

More than 9% of healthy adults have a genetic risk of developing cancer. Cancer screening offers healthy adults an opportunity to understand their DNA, assess heritable cancer risk, and take proactive action if necessary.

Learn more

Carrier screening

80% of children born with genetic disorders have no family history. The American College of Obstetricians and Gynecologists recommends offering carrier screening to all patients of reproductive age.

Learn more

Pregnancy loss analysis

More than 50% of all early pregnancy losses are due to a fetal chromosomal abnormality. Chromosomal microarray analysis can help identify the cause of recurrent miscarriage.

Learn more

References:

  1. Miller DT et al. Consensus Statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010 86(%):749-764.
  2. Manning M and Hudgins L. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med. 2010; 12(11):742-745.
  3. Michelson DJ et al. Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2011 Oct 25;77(17):1629-35.
  4. Ellison JW et al. American Academy of Pediatrics: Clinical utility of chromosomal microarray analysis. Pediatrics. 2012;130e:e1085-e1095.