Genomic Medicine

SR NOTESTTEST COMPONENTSMETHODSPECIMEN/TRANSPORTTATCLINICAL APPLICATIONS
1Prenatal - Beta thalassemia gene sequencingAll exons of HBBSanger SequencingAF, CVS, mother+father blood in EDTA7 daysDetection of pathogenic mutations in a DNA sample can lead to a diagnosis, possible prognosis, and prospective therapy treatments. And fetal diagnosis.
2Chromosome 13 for trisomy (Patau's Syndrome)Chromosome 13 for trisomy (Patau's Syndrome)Chromosome 13 for trisomy (Patau's Syndrome)Chromosome 13 for trisomy (Patau's Syndrome)Chromosome 13 for trisomy (Patau's Syndrome)Can detect aneuploidy of chromosome 13.
3Chromosome 18 for trisomy (Edward's Syndrome)Chromosome 18 for trisomy (Edward's Syndrome)Chromosome 18 for trisomy (Edward's Syndrome)Chromosome 18 for trisomy (Edward's Syndrome)Chromosome 18 for trisomy (Edward's Syndrome)Can detect aneuploidy of chromosome 18.
4Chromosome 21 for trisomy (Down's Syndorme)Chromosome 21 for trisomy (Down's Syndorme)Chromosome 21 for trisomy (Down's Syndorme)Chromosome 21 for trisomy (Down's Syndorme)Chromosome 21 for trisomy (Down's Syndorme)Can detect aneuploidy of chromosome 21.
5Sex Chromosome-X/YSex Chromosome-X/YSex Chromosome-X/YSex Chromosome-X/YSex Chromosome-X/YCan detect abnormality in sex chromosome.
6Prenatal FISH Panel- 13, 18, & 21chromosome 13 18 and 21FISHSodium heparin cord Blood (2ml)/Amniotic Fluid/ CVS5 daysCan detect aneuploidy of chromosome 13 18 21 and abnormality in sex chromosome.
7Prenatal FISH Panel- 13, 18, 21, X & Ychromosome 13 18 22 X and YFISHSodium heparin cord Blood (2ml)/Amniotic Fluid/ CVS5 daysCan detect aneuploidy of chromosome 13 18 21 and abnormality in sex chromosome.
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9Clinical exome sequencing.A panel of genes.NGSPreferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration. Specimen at room temperature. Also acceptable: Refrigerated. Ship in cooled container during summer months.20Clinical exome sequencing (CES) is rapidly becoming a common molecular
diagnostic test for establishing a definitive molecular diagnosis of individuals with rare genetic disorders which can allow for:
-Better understanding of the natural history/prognosis
-Targeted management (anticipatory guidance, management changes, specific therapies)
-Predictive testing of at-risk family members
-Testing and exclusion of disease in siblings or other relatives
-Recurrence risk assessment
-Reproductive decision-making
Serving as a second-tier test for patients in whom previous genetic testing for specific syndromes was negative Providing a potentially cost-effective alternative to establishing a molecular diagnosis compared to multiple independent molecular assays
10Glycogen Storage Disorders PanelGSD Panel of 8 GenesNext-Generation SequencingPreferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration20 daysEstablishing a definitive molecular diagnosis and Follow up of abnormal biochemical results consistent with glycogen storage disease Identifying mutations within genes known to be associated with glycogen storage disease, allowing for predictive testing of at-risk family members
11Lysosomal Storage disorders PanelLSD Panel of 18 GenesNext-Generation SequencingPreferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration20 daysFollow up for abnormal biochemical results and confirmation of suspected lysosomal storage disease (LSD) Identifying mutations within genes known to be associated with lysosomal storage disease, allowing for predictive testing of at-risk family members and prenatal screening
12Mucopolysachharidosis PanelLSD Panel of 18 GenesNext-Generation SequencingPreferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration20 daysEstablishing a definitive molecular diagnosis of a suspected case of Mucopolysaccharidosis. It has potential to facilitate the diagnosis of patients showing non-specific muscle weakness or atypical phenotypes.
13Maple Syrup Urine Disease PanelDBT, DLD, BCKDHA, BCKDHB genesNext-Generation SequencingPreferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration20 daysThis test is used to screen for mutations in the genes responsible for MSUDP. This test helps in determining the necessity for screening in other family members. In cases of a positive finding in a patient of child bearing age, Preimplantation genetic diagnosis can be performed in most cases to help conceive a child without the pathogenic mutation.
14Noonans SyndromeCoding region and certain intronic padding region of the genes associated with RASopathies. The genes included in this panel are: PTPN11, SOS1, RAF1, RIT1, BRAF, KRAS, MAP2K1, NRAS, RASA2, HRAS, SHOC2, SPRED1Next-Generation SequencingPreferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration20 daysThis test is used to screen for mutations in the genes responsible for NONS. This test helps in determining the necessity for screening in other family members. In cases of a positive finding in a patient of child bearing age, Preimplantation genetic diagnosis can be performed in most cases to help conceive a child without the pathogenic mutation.
15Osteogenesis ImperfectaCoding region and certain intronic padding region of the COL1A1, COL1A2, CRTAP genes associated with Osteogenesis Imperfecta.Next-Generation SequencingPreferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration20 daysThis test is used to screen for mutations in the genes responsible for OSI. This test helps in determining the necessity for screening in other family members. In cases of a positive finding in a patient of child bearing age, Preimplantation genetic diagnosis can be performed in most cases to help conceive a child without the pathogenic mutation.
16Progressive familial intrahepatic cholestasis mutation analysis (PFIC1&2)Coding region and certain intronic padding region of the ATP8B1 (PFIC1) and ABCB11 (PFIC2) genes associated with Progressive familial intrahepatic cholestasis.Next-Generation SequencingPreferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration20 daysThis test is used to screen for mutations in the genes responsible for PFIC12. This test helps in determining the necessity for screening in other family members. In cases of a positive finding in a patient of child bearing age, Preimplantation genetic diagnosis can be performed in most cases to help conceive a child without the pathogenic mutation.
17Rett Syndrome (MECP2)Coding region along with certain intronic padding region of MECP2 gene to check for the presence of mutations associated with Rett Syndrome.Sanger SequencingWhole blood 3ml in EDTA vacutainer10 daysThis test is used to screen for mutations in the genes responsible for MECP2. This test helps in determining the necessity for screening in other family members. In cases of a positive finding in a patient of child bearing age, Preimplantation genetic diagnosis can be performed in most cases to help conceive a child without the pathogenic mutation.
18Hereditary Fructose Intolerance (ALODB)NGS- ALODB SINGLE GENENext-Generation SequencingWhole blood 3ml in EDTA vacutainer20 daysThis test is used to screen for mutations in the genes responsible for HFI. This test helps in determining the necessity for screening in other family members. In cases of a positive finding in a patient of child bearing age, Preimplantation genetic diagnosis can be performed in most cases to help conceive a child without the pathogenic mutation.
19Galactosemia (GALT) mutation analysiscoding region along with certain intronic padding of the GALT, GALK1 and GALE genes to associated with Galactosemia.Next-Generation SequencingWhole blood 3ml in EDTA vacutainer20 daysThis test is used to screen for mutations in the genes responsible for GALT. This test helps in determining the necessity for screening in other family members. In cases of a positive finding in a patient of child bearing age, Preimplantation genetic diagnosis can be performed in most cases to help conceive a child without the pathogenic mutation.
20Phenylketonuria (PKU) gene mutation analysiscoding region along with certain intronic padding of the PAH to be associated with Phenylketonuria, classic PKU, PAH deficiency (Phenylalanine Hydroxylase Deficiency)Next-Generation SequencingWhole blood 3ml in EDTA vacutainer20 daysThis test is used to screen for mutations in the genes responsible for PKU. This test helps in determining the necessity for screening in other family members. In cases of a positive finding in a patient of child bearing age, Preimplantation genetic diagnosis can be performed in most cases to help conceive a child without the pathogenic mutation.
2121-OH (11 mutations)- Congenital Adrenal HyperplasiaTargeted regions of CYP21 geneSanger Sequencing10 daysUse to monitor treatment of individuals with classic or nonclassic congenital adrenal hyperplasia.
22Williams SyndromeWilliams SyndromeWilliams SyndromeWilliams SyndromeWilliams SyndromeDetecting cryptic rearrangements involving 7q11.23 that are not demonstrated by conventional chromosome studies
23Prade-Willi/ Angleman SyndromeChromosome 15MicroarrayEDTA Blood (3ml)10 daysTo detect paternal or maternal deletion of 15q11-q13.
24Di-George Syndrome del (22q)Chromosome 22MicroarrayEDTA Blood (3ml)10 daysTo detect cryptic rearrangements involving 22q11.2 or 22q11.3
25DYT1 Dystonia (TOR1A)Targeted Mutation in DYT1Sanger SequencingEDTA whole blood (3ml)7 DaysThis test is used to screen for the common mutation in the TOR1A gene responsible for Dystonia Disorder. Detection of pathogenic mutation in an individual can lead to a diagnosis, possible prognosis, and prospective therapy treatments.
26Tyrosinemia (FAH)NGS- FAH SINGLE GENENext-Generation SequencingWhole blood 3ml in EDTA vacutainer20 daysConfirmation of biochemical diagnosis, Carrier testing, Prenatal diagnosis in at risk pregnancies