Clinical Genomics

SR NO TEST TEST COMPONENTS METHOD SPECIMEN/TRANSPORT TAT CLINICAL APPLICATIONS
1 Prenatal - Beta thalassemia gene sequencing All exons of HBB Sanger Sequencing AF, CVS, mother+father blood in EDTA 7 days Detection of pathogenic mutations in a DNA sample can lead to a diagnosis, possible prognosis, and prospective therapy treatments. And fetal diagnosis.
2 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) Chromosome 13 for trisomy (Patau's Syndrome) Can detect aneuploidy of chromosome 13.
3 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) Chromosome 18 for trisomy (Edward's Syndrome) Can detect aneuploidy of chromosome 18.
4 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) Chromosome 21 for trisomy (Down's Syndorme) Can detect aneuploidy of chromosome 21.
5 Sex Chromosome-X/Y Sex Chromosome-X/Y Sex Chromosome-X/Y Sex Chromosome-X/Y Sex Chromosome-X/Y Can detect abnormality in sex chromosome.
6 Prenatal FISH Panel- 13, 18, & 21 chromosome 13 18 and 21 FISH Sodium heparin cord Blood (2ml)/Amniotic Fluid/ CVS 5 days Can detect aneuploidy of chromosome 13 18 21 and abnormality in sex chromosome.
7 Prenatal FISH Panel- 13, 18, 21, X & Y chromosome 13 18 22 X and Y FISH Sodium heparin cord Blood (2ml)/Amniotic Fluid/ CVS 5 days Can detect aneuploidy of chromosome 13 18 21 and abnormality in sex chromosome.
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9 Clinical exome sequencing. A panel of genes. NGS Preferred 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. 20 Clinical 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
10 Glycogen Storage Disorders Panel GSD Panel of 8 Genes Next-Generation Sequencing Preferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration 20 days Establishing 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
11 Lysosomal Storage disorders Panel LSD Panel of 18 Genes Next-Generation Sequencing Preferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration 20 days Follow 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
12 Mucopolysachharidosis Panel LSD Panel of 18 Genes Next-Generation Sequencing Preferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration 20 days Establishing 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.
13 Maple Syrup Urine Disease Panel DBT, DLD, BCKDHA, BCKDHB genes Next-Generation Sequencing Preferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration 20 days This 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.
14 Noonans Syndrome Coding 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, SPRED1 Next-Generation Sequencing Preferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration 20 days This 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.
15 Osteogenesis Imperfecta Coding region and certain intronic padding region of the COL1A1, COL1A2, CRTAP genes associated with Osteogenesis Imperfecta. Next-Generation Sequencing Preferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration 20 days This 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.
16 Progressive 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 Sequencing Preferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration 20 days This 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.
17 Rett 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 Sequencing Whole blood 3ml in EDTA vacutainer 10 days This 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.
18 Hereditary Fructose Intolerance (ALODB) NGS- ALODB SINGLE GENE Next-Generation Sequencing Whole blood 3ml in EDTA vacutainer 20 days This 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.
19 Galactosemia (GALT) mutation analysis coding region along with certain intronic padding of the GALT, GALK1 and GALE genes to associated with Galactosemia. Next-Generation Sequencing Whole blood 3ml in EDTA vacutainer 20 days This 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.
20 Phenylketonuria (PKU) gene mutation analysis coding region along with certain intronic padding of the PAH to be associated with Phenylketonuria, classic PKU, PAH deficiency (Phenylalanine Hydroxylase Deficiency) Next-Generation Sequencing Whole blood 3ml in EDTA vacutainer 20 days This 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.
21 21-OH (11 mutations)- Congenital Adrenal Hyperplasia Targeted regions of CYP21 gene Sanger Sequencing 10 days Use to monitor treatment of individuals with classic or nonclassic congenital adrenal hyperplasia.
22 Williams Syndrome Williams Syndrome Williams Syndrome Williams Syndrome Williams Syndrome Detecting cryptic rearrangements involving 7q11.23 that are not demonstrated by conventional chromosome studies
23 Prade-Willi/ Angleman Syndrome Chromosome 15 Microarray EDTA Blood (3ml) 10 days To detect paternal or maternal deletion of 15q11-q13.
24 Di-George Syndrome del (22q) Chromosome 22 Microarray EDTA Blood (3ml) 10 days To detect cryptic rearrangements involving 22q11.2 or 22q11.3
25 DYT1 Dystonia (TOR1A) Targeted Mutation in DYT1 Sanger Sequencing EDTA whole blood (3ml) 7 Days This 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.
26 Tyrosinemia (FAH) NGS- FAH SINGLE GENE Next-Generation Sequencing Whole blood 3ml in EDTA vacutainer 20 days Confirmation of biochemical diagnosis, Carrier testing, Prenatal diagnosis in at risk pregnancies
SR NO TEST TEST COMPONENTS METHOD SPECIMEN/TRANSPORT TAT CLINICAL APPLICATIONS