Pediatrics Test Menu / Turnaround Time
Additional Information
Whole Exome Sequencing
Next Generation Sequencing (NGS) or massive parallel sequencing is any of several high-throughput approaches to DNA sequencing which has revolutionized the way scientists think about genetic information. As cost of NGS testing is coming down, we are going to be able to get a complete catalogue of disease genes. This will allow us to discover thousands of critical genes that cause different kinds of monogenic and multigenic diseases and cancers.
Whole Exome Sequencing - CentoXome
6 weeks
Whole Exome Sequencing (WES) is the most comprehensive genetic test that identifies changes in a patient's DNA that are causative or related to their medical concerns. By focusing on the entire protein- coding regions of the genome – the exome – WES offers the coverage needed to diagnose patients rapidly and reliably.
Whole Genome Sequencing (WGS) - CentoGenome
6 weeks
Most studies on genetic diseases have been heavily biased towards variants in gene coding regions, but this only accounts for approx. 1-2% of a patient’s entire genome. Recently, however, a growing body of studies have demonstrated that clinical WGS offers a more comprehensive analysis than WES and can provide molecular diagnosis where WES can not. Non-coding variants are growing in number and importance, spanning from sequence variants to more complex structural variations.
For more information please contact Farabi.
Cystic Fibrosis
Early diagnosis and treatment can significantly improve both the quality of life and the lifespan of children born with cystic fibrosis.
Sweat Chloride Test
Same day
The proven diagnostic effectiveness of analyzing electrolyte concentration in sweat makes it vital to perform this test as soon as possible after birth. The Nanoduct Neonatal Sweat Analysis System simplifies the sweat test and for the first time makes possible reliable laboratory diagnosis of CF in the first days of life. Learn more
CFTR gene molecular analysis for 18 common mutations
Next day
common mutations ∆F508 included in cystic fibrosis by Multiplex RT PCR method Learn more
CFTR gene molecular analysis for all mutations
4 weeks
Sanger sequencing or NGS Learn more
For more information please contact Farabi.
Newborn Screening Tests
The detection of inborn errors of metabolism (IEM) depends upon a high index of suspicion and coordinated access to expert laboratory services. Laboratory evaluation for IEM should be undertaken in all patients with suggestive history, examination, and/or abnormalities of routine laboratory tests.
Basic Newborn Screening Panel
6 weeks
The test includes screening for amino acid disorders, fatty acid oxidation disorders, organic acid disorders, congenital hypothyroidism, galactosemia, and congenital adrenal hyperplasia.
Lysosomal Storage Disorders
6 weeks
The panel includes tests for Fabry, Gaucher, Pompe, Krabbe, Neiman-Pick diseases and various forms of mucopolysaccharidoses and lipofuscinosis syndromes.
Full details of the panels are available from Farabi or refer to section "Clinical Topics" on this website.
Basic Newborn Screening Panel from Farabi Lab
For additional panels and combined panel options please refer to catalog of tests or contact Farabi Lab
Inherited Metabolic NGS Panel
Inherited metabolic disorders (IMDs) are a group of rare conditions caused by genetic defects that disrupt the cellular metabolism. A growing number of IMDs are treatable if diagnosed early, but can be quickly fatal without prompt identification. With a multiomic approach, we can help accelerate the critical journey from symptoms to diagnosis by avoiding stepwise testing – saving time, resources, and pivotal years during which IMDs can rapidly progress.
Inherited Metabolic NGS Panel, CentoMetabolic
6 weeks
CentoMetabolic is a multigenic (206 genes) panel for IMDs – integrating genetic and biochemical testing, for the fastest and most in-depth diagnosis. When genetic variants relevant to a patient are detected via CentoMetabolic, we automatically complement the analysis with biomarkers and/or enzyme testing if applicable, and include the results in the medical report. exome – WES offers the coverage needed to diagnose patients rapidly and reliably.
Neonatal screen for metabolic diseases (inborn errors of metabolism) are also available from Farabi.
Blood Coagulation Panel
Blood Coagulation Panel
6 weeks
The panel contains 112 genes for the molecular diagnosis of thrombophilia, thrombocytopenia, hereditary hemorrhagic telangiectasia, ARC syndrome, Hermasky- Pudlak syndrome, coagulation factor disorders, and platelet related disorders.
For more information please contact Farabi.
Bone Marrow Failure / Anemia Panel
This panel that include 211 genes sequencing plus copy number variations (CNV) is intended for patients with abnormalities in more than two blood cell types (red blood cell, white blood cell, and platelets) who present symptoms of lethargy, recurrent infections, excessive bleeding, abnormal pigmentation, enlarged spleen, and malignancies.
Bone Marrow Failure / Anemia Panel
6 weeks
Some specific disorders detected with this panel are hemophagocytic lymphohistiocytosis, Seckel syndrome, thrombocytopenia, Fanconi anemia, dyskeratosis congenita, Shwachman Diamond syndrome as well as other types of anemias, such as thalassemia alpha and beta, sickle cell disease, spherocytosis, megaloblastic anemia, congenital sideroblastic, and dyserythropoietic anemia.
For more information please contact Farabi.
Immune Deficiency / Dysfunction Panel
This panel that includes 326 genes is the solution for immunodeficiency and severe combined immunodeficiency (SCID) disorders.
Immune Deficiency/Dysfunction Panel, CentoImmuno
6 weeks
The panel includes genes targeting severe combined immunodeficiency, congenital neutropenia, primary antibody deficiency, common variable immune deficiency, chronic granulomatous disease, autoimmune lymphoproliferative, and agammaglobulinemia.
For more information please contact Farabi.
NICU Panel
A comprehensive NGS panel that includes 855 genes explicitly selected for the genetic testing of critically ill newborns and children under 24 months in intensive care units (ICU).
NICU Panel, CentoNICU
6 weeks
It is designed to address multiple genetic conditions that may be present in the newborn or early childhood period, with many having overlapping phenotypes and immediate implications for treatment initiation. It allows clinicians to utilize just one single test to provide an accurate diagnosis of newborn-related diseases using dried blood spots.
For more information please contact Farabi.
Epilepsy Panel
While some types of seizures are easily categorized others are not or might later develop into different types (i.e., partial seizures with secondary generalization) – making targeted panel testing less likely to succeed at reaching a diagnosis.
Epilepsy Panel
6 weeks
Our Epilepsy panel that includes 784 genes is a phenotype-directed panel that covers different types of seizure syndromes, covering Dravet syndrome, early infantile epileptic encephalopathy, epilepsy partial, epilepsy generalized, epilepsy absence, myoclonic epilepsy panel, and hypomagnesemia.
For more information please contact Farabi.
Intellectual Disability Panel
This panel includes 817 genes associated with intellectual disabilities covering all mechanisms of inheritance.
Intellectual Disability Panel
6 weeks
This panel includes 817 genes associated with intellectual disabilities covering all mechanisms of inheritance as well as syndromic and non-syndromic autism, microcephaly, neuronal migration disorders, developmental regression, and Aicardi Goutierres. Detection of Fragile X syndrome is also possible, as the panel includes repeat expansion of FMR gene.
For more information please contact Farabi.
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