Since small specimen volumes can pose a challenge, Indalo Bio has developed one of the largest pediatric databases in the laboratory industry.

Children with medical complexities represent a growing population in the paediatric health care system.

These complexities involve high resource use and associated health care costs. A genetic diagnosis can inform prognosis, anticipatory care, management, and reproductive planning.

Recent global efforts to sequence the human genome has greatly enhanced the ability to test definitively for many genetic conditions. For many, this allows the diagnosis of disorders that have been previously only been suspected.

WHY GENOME TESTING?

PANELS TAILORED TO YOUR PATIENTS’ SPECIFIC NEEDS

Over 7,000 genes have been identified in which mutations are associated with a range of medical disorders. This growing knowledge has shown that many genetic diseases and syndromes can have a wide range of symptoms, which often overlap with one another. Finding the specific causal gene mutation in one patient — essentially a needle in the genetic haystack — enables healthcare practitioners to make a firm clinical diagnosis, which can lead to improved treatment or targeted therapies.

Genetic testing for children allows you to:

  • Shorten diagnosis time
  • Tailor healthcare to your patients’ specific needs
  • Determine which medications may be most effective or contraindicated
  • Eliminate or reduce the need for more invasive testing (i.e., muscle/skin biopsies, CSF studies, EMG/NCV testing)
  • Identify appropriate emerging therapies and clinical trials
  • Ensure that you don’t miss diagnosing treatable conditions
  • Identify or predict the risk of disease for family members

WE OFFER ONE OF THE BROADEST PAEDIATRIC GENETIC TESTINGS.

Our panel tests for more than 1,000 genes and includes:

  • Comprehensive testing in neuromuscular disorders, epilepsy, ciliopathies, and RASopathies
  • Diagnosis of blood cancers and solid tumours
  • Robust testing for inherited metabolic disorders
  • Paediatric developmental disorder diagnosis tests
  • Additional panels covering a wide range of conditions
Find Out More

RELATED MATERIALS

Next generation cytogenetics: genome-imaging enables comprehensive structural variant detection for 100 constitutional chromosomal aberrations in 85 samples

Mantere T et al, 2020

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

Ebert P. et al, 2021

Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury

Osei-Owusu I. et al, 2020

Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier

Eisfeldt J. et al, 2020

Towards improved genetic diagnosis of human differences of sex development

Delot E et al, 2021

Towards a Comprehensive Variation Benchmark for Challenging Medically-Relevant Autosomal Genes

Wagner J et al, 2021

New technologies to uncover the molecular basis of disorders of sex development

Barseghyan H et al, 2018

Exploring the Missing Heritability in Subjects With Hearing Loss, Enlarged Vestibular Aqueducts, and A Single or No Pathogenic SLC26A4 Variant

Smits J et al, 2021

Identification of a likely pathogenic structural variation in the LAMA1 gene by Bionano optical mapping

Chen M et al, 2020

Beginner’s Guide to Optical Genome Mapping: The Key to Structural Variation Detection

Dr. Sven Bocklandt

Texas Genetics Society Meeting – 2021

VP Scientific Affairs, Bionano Genomics

Advanced Structural Analysis of Risk Loci for Congenital Diaphragmatic Hernia Using Optical Genome Mapping Technology

Frances High Webinar

Bionano Genome Imaging: Unbiased, Genome-wide Structural Variation Detection in Genetic Disease and Cancer, Down to 1% Allele Fraction

Dr. Sven Bocklandt

From Data to Discovery: Tools to identify the pathogenic structural variant in patients with genetic disease

Dr. Hayk Barseghyan

Resolving Complex Haplotypes Implicated in Alzheimer’s and Other Neurodegenerative Diseases

Dr. Mark T. W. Ebbert

From Data to Discovery: Tools to identify the pathogenic structural variant in patients with genetic disease

Dr. Hayk Barseghyan July 29, 2020

Resolving Complex Haplotypes Implicated in Alzheimer’s and Other Neurodegenerative Diseases

Dr. Mark T. W. Ebbert August 26, 2020 | 8:00A PDT | 11:00A EDT | 5:00P CET

Optical Mapping in Rare Genetic Disease Diagnosis

Pui-Yan Kwok, MD, PhD, Professor October 23, 2020

Bionano Genome Imaging: Unbiased, Genome-wide Structural Variation Detection in Genetic Disease and Cancer, Down to 1% Allele Fraction

Dr. Sven Bocklandt April 21, 2020

Known Unknowns: Unraveling genomic inversions and their role in disease traits

Christopher M. Grochowski December 10, 2020

HOW TO GET STARTED

STEP 1

Contact Us or Book Your Slot Online

STEP 2

Provide Us with Your Sample

STEP 3

Samples are Returned