How does genetic testing help? Better healthcare through next generation diagnostics Confirmation of clinically suspected diagnosis – especially for those conditions for which no definite clinical or biochemical investigations exist e.g. spinal muscular dystrophy and syndromic causes of intellectual disability Answers to unusual occurrences of a condition Genetic counseling and prediction of risk of recurrence in the family Assistance in prognosis and guidance on possible therapeutic options – like bone marrow transplantation in certain lysosomal storage disorders, osteopetrosis Helps the family to take reproductive decision and undergo prenatal diagnosis Predictive testing in family members at risk and option for prophylactic treatment Who should be considered for genetic testing? Increased RBCs, WBCs, platelets Individuals or families with: Intellectual disability, developmental delay or organ malformations Bad obstetric history, multiple abortions or still births Failure to thrive, uncontrolled seizures, loss of attained milestones, unexplained neonatal or childhood deaths Recurrent infections Bleeding disorders or frequent need for blood transfusions Short stature, abnormal bone shapes, recurrent fractures Hearing loss Blindness Muscle weakness Familial clustering of cancer or early onset cancers Families with two or more similarly affected children or siblings GenePath Dx JAK2 v2 Real Time qPCR Test Kit are the genetic that can provide useful information? JAK2 tests V617F mutation ForWhat detection of the The choice a genetic depends upon the genetic condition type This of genetic speaking, the The Janus Kinase of 2 gene (JAK2)test provides instructions to cells for making the and JAK2the protein. proteindefects. promotesBroadly cell growth and types of genetic defects may be chromosomal abnormalities, copy number variations (CNVs) or small sequence variations. division and is especially important for controlling blood cell production within the bone marrow. A point mutation (V617F) in exon to diagnose of these defects are different andmyeloproliferative include karyotyping, cytogenetic 14 of Genetic the JAK2techniques gene is the most commoneach somatic mutation in BCR-ABL negative neoplasms, a groupmicroarray of closely variations and Multiplex Ligation-dependent Probe Amplification (MLPA), capillary sequencing for one/few genes and related disorders in which the bone marrow produces too many of one or more types of blood cells. targeted next generation sequencing for panels of genes or exome sequencing for entire coding region of the genome. Salient Features: JAK2 V617F mutation [JAK2 :c.G1849T (p.V617F)] in genomic DNA extracted from either EDTA peripheral blood • Detection What ofistheclinical exome sequencing? • • • or bone marrow samples. The kit contains Standards that allow for the quantification of the JAK2 V617F mutation which can be determined by calculating Clinical exome sequencing enables(MAF). simultaneous testing of about 4800+ genes that have well documented clinical the % relative Mutant Allele Frequency implications various genetic conditions bypresence next generation sequencing (NGS). Clinical Wild type alleleinserves as human an internal control, monitoring of PCR inhibitors in extracted DNA exome sequencing allows analysis of two a large number clinically genes at the same time with considerable cost savings over full exome or Single tube, channel assayofwith broadrelevant instrument compatibility whole genome sequencing. Analytical sensitivity: On the QIAGEN should Rotor-Gene Q, assay is capable of detectingfor downclinical to 1% relative Mutant Allele Frequency of the V617F mutation When a this patient be referred exome sequencing? from 10ng of input DNA from clinical sample and synthetic plasmid. Conditions with genetic heterogeneity (i.e. diseases in which multiple genes and genetic mechanisms are implicated) in Analytical specificity: which prioritization of genetic targets (i.e. reflex testing) is difficult (and ultimately expensive) based on clinical history and Laboratory lab) andinvestigations in silico (bioinformatic) analysis show that test and its component assays are highly specific to JAK2 other (wet laboratory are prime candidates for the targeted exome sequencing. Typically these include intellectual V617Fdisability, and demonstrate no cross-reactivity to or interference from human genomic DNA, other human transcripts or commonly retinitis pigmentosa, hearing loss, immunodeficiency disorders, lysosomal storage disorders, albinism, encountered or commensals. charcotpathogens marie tooth disease, peroxisomal disorders, Ectodermal dysplasia, skeletal dysplasia, early infantile epileptic encephalopathy etc. contact [email protected]. For more information, please Better healthcare through next generation diagnostics GenePath Diagnostics Inc. 674 South Wagner Road, Ann Arbor, MI 48103, USA Phone: +1 734 365 7722 GenePath Dx GenePath Diagnostics India Pvt. Ltd. Jangli Maharaj Road, Shivajinagar, Pune 411004 Above Phadke Hospital, 1260/B Above Phadke Jangli Maharaj Road, Shivajinagar (Deccan Gymkhana), Mobile: Hospital,1260/B +91 96234 95511, +91 20 2553 4780 | email: [email protected] Pune, Maharashtra 411004, India www.genepathdx.com Phone: +91 96234 95511, +91 20 2553 4730, +91 20 4856 6661 [email protected] | www.genepathdx.com Manufactured by: BioSystems Diagnostics Pvt. Ltd. A4 - SIPCOT, Irungattukottai, TN - 602105. EN ISO 13485 Standard Cert