Genetics tests in Details

Genetic testing is usually done to screen for or confirm that you have genes that increase the risk for a certain disease. It can be done on newborns, children, or adults. Some parents choose to be tested before or during pregnancy to see whether they are carriers of a certain disease, such as hemophilia.Your genes are like an instruction book: They hold the blueprint for all your inherited traits, from the color of your eyes, to how tall you will grow.Your genes can also tell you whether you're at risk of inheriting a disease, such as breast cancer, cystic fibrosis or Huntington disease. They may also help your healthcare provider figure out the best medicines to treat your condition.A genetic test can find out whether you have damaged, missing, or overactive genes that can cause certain diseases. This test checks your blood or other fluids to look at the pattern (sequence) of the DNA that makes up your genes.

These are different types of genetic tests:

Gene tests,which look at single genes or fairly short strands of DNA

Chromosomal tests, which test entire chromosomes or long strands of DNA

Biochemical tests, which look at protein and enzyme activities

type * to show all tests.

In our Labs, # of Clinical Genetics tests is:(175)

ABO Phenotyping and Genotyping by PCR

Avian influenza virus by PCR

b- Globin Gene Mutations (22), PCR, Amniotic Fluid

b- Globin Gene Mutations (22), PCR, Blood

b- Globin Gene Mutations (b Thalassemia), Amniotic

b- Globin Gene Mutations (b Thalassemia), Blood

Beta-Thalassemia Sequencing - Targeted known mutation

Beta-Thalassemia Sequencing - Whole Coding Region

Beta-Thalassemia, Carrier Testing known mutation

Beta-Thalassemia, PGD (Pre-implantation genetic diag)–unknown mutation

Beta-Thalassemia, Prenatal Analysis - Sequencing entire coding region

Beta-Thalassemia, Prenatal Analysis - unknown mutation

BRCA1 Carrier Testing known mutation

BRCA1 Prenatal Analysis - known mutation

BRCA1 Prenatal analysis - unknown mutation

BRCA1 Sequencing - known mutation

BRCA1 Sequencing - Targeted known exons

BRCA1 Sequencing - Whole Coding Region

Cardiovasular Disease, 12 Mutation Profile, PCR

CFTR (Cystic Fibrosis Gene) Carrier Testing known mutation

CFTR PGD (Pre-implantation Genetic Diagnosis) - known mutation

CFTR PGD (Pre-implantation Genetic Diagnosis) - unknown mutation

CFTR Prenatal Analysis - unknown mutation

CFTR Sequencing - 32 mutations

CFTR Sequencing - targeted known exons

CFTR Sequencing - whole coding region

Chlamydia by PCR, Qualitative

Chlamydia by PCR, Quantitative

Chromosomal Karyotyping, Fragile X Syndrome

CMV by PCR, Qualitative

CMV by PCR, Quantitative

Coagulation Factor II, Plasma:(more info)

Coagulation Factor IX Assay, Plasma

Coagulation Factor V, Plasma

Coagulation Factor VII, Plasma :

Coagulation Factor VIII:C, Plasma

Coagulation Factor XI Assay, Plasma

Coagulation Factor XII Assay, Plasma

Coagulation Factor XIII Assay, Plasma

CONFERMATION PHENYLKETONURIA

CONFERMATION TEST FOR MAPLE SYRUP -URINE By GCMS

Cystinuria Carrier Testing known mutation

Cystinuria PGD (Pre-Implantation Genetic Diagnosis) - known mutation

Cystinuria PGD (Pre-Implantation Genetic Diagnosis)- unknown mutation

Cystinuria Prenatal Analysis - known mutation

Cystinuria Prenatal Analysis - unknown mutation

Cystinuria Sequencing - known mutation

Cystinuria Sequencing - Targeted known exons

Cystinuria Sequencing - Whole Coding Region

DMD (Duchenne Muscular Dystrophy)/Becker Deletion

Down Syndrome (AFP+B-HCG)

Down Syndrome (First Trimester Screen)

Down Syndrome (Triple Screen)

Down Syndrome Calculation

Factor II Carrier Testing known mutation

Factor II by PCR

Factor V Carrier Testing known mutation

Factor V by PCR

FISH (Phil Chromosome or BCR-ABL)

FISH for Chromosome 13: Prenatal or Postnatal

FISH for Chromosome 18: Prenatal or Postnatal

FISH for Chromosome 21: Prenatal or Postnatal

FISH for Chromosomes 21, 13 & 18: Prenatal or Postnatal

FISH for Chromosomes X & Y Prenatal or Postnatal

FISH for Chromosomes: 21, 13, 18, X & Y

FISH for Chromosomes: 21, 13, X & Y Prenatal or Postnatal

FISH for X Chromosome: Prenatal or Postnatal

FISH for Y Chromosome: Prenatal or Postnatal

FISH on CVS (Chorionic Villus Sampling) for Down syndrome

FISH: Fanconi Anemia

FISH: Fetal Blood

FISH: Other Translocation

FISH: Prenatal or Postnatal Chromosomal Abnormality, 2 probes

FISH: Prenatal or Postnatal Chromosomal Abnormality, 3 probes

FISH: Prenatal or Postnatal Chromosomal Abnormality, 4 probes

FISH: Prenatal or Postnatal Chromosomal Abnormality, 5 probes

FISH: Prenatal or Postnatal Chromosomal Abnormality, one probe

FISH: Trisomy 21

FMF Carrier Testing known mutation

FMF PGD (Pre Implantation Genetic Diagnosis) known mutation

FMF PGD unknown mutation

FMF Prenatal Analysis known mutation

FMF Prenatal Analysis unknown mutation

FMF Sequencing - Selected Known Exons

FMF Sequencing - Targeted Mutation

FMF Sequencing - Whole Coding Region

Fragile X Cytogenetics method

Gaucher Disease Gene PCR Method

Gene Dosage Analysis Per Exon

Gonococcus by PCR, Qualitative

HBV Genotyping 5-6 genotypes

HBV Qualitative PCR method

HBV Quantitative PCR method

HCV Genotyping

HCV Qualitative PCR method

HCV Quantitative PCR method

Helicobacter pylori DNA, PCR

Hemochromatosis Gene

Hereditary Haemochromatosis Mutation, PCR

Herpes Simplex Virus I & II (HSV I & II) DNA, PCR

HIV by PCR, Qualitative

HIV by PCR, Quantitative

HLA-ABC Class I by Serology, Immunobeads or PCR method

HLA-B27 by Serology or PCR method

HLA-B5 by Serology or PCR method

HLA-DR Class II by Serology, Immunobeads or PCR method

Human papilloma Virus Subtypes: 6, 11, 40, 16, 18, 31, 45, 56, 52

Human Papillomavirus (HPV) Genotyping, PCR

Hyperoxaluria Carrier Testing known mutation

Hyperoxaluria PGD (Pre-implantation genetic diagnosis) - known mutation

Hyperoxaluria PGD (Pre-implantation genetic diagnosis) - unknown mutation

Hyperoxaluria Prenatal Analysis - known mutation

Hyperoxaluria Prenatal Analysis - unknown mutation

Hyperoxaluria Sequencing - Targeted known mutation

Hyperoxaluria Sequencing - Whole Coding Region

Karyotyping, amniotic fluid

Karyotyping, bone marrow

Karyotyping, CVS

Karyotyping, peripheral blood

Karyotyping, products of conception

Liley Zone for Amniotic Fluid

MTHFR Carrier Testing known mutation

MTHFR Targeted known mutation

Mycoplasma pneumonia, PCR

P53 Carrier Testing - known mutation

P53 PGD (Pre Implantation Genetic Diagnosis) - known mutation

P53 PGD (Pre Implantation Genetic Diagnosis) - unknown mutation

P53 Prenatal Analysis - known mutation

P53 Prenatal Analysis - unknown mutation

P53 Sequencing - known mutation

P53 Sequencing - Targeted known exons

P53 Sequencing - Whole Coding Region

PAPP-A for NT screen :

Parvovirus (B19) DNA, PCR

Prothrombin G20210A Mutation, PCR, Blood(more info)

Rh Genotyping Amniotic Fluid, PCR

Rh Genotyping, Blood, PCR

SARS by PCR

Sickle Cell Carrier Testing

Sickle Cell PGD

Sickle Cell Prenatal Analysis

Sickle Cell Targeted known mutation

TB, fluid/swab by PCR

Thrombophilia Genetic Panel (APCR, MTHFR & Prothrombin Mutations), PCR

Tumor Marker ABL-BCR by FISH

Tumor Marker ABL-BCR Quantitative by PCR

Tumor Marker Translocation Qualitative by PCR: InV.(16)

Tumor Marker Translocation Qualitative by PCR: t (1, 19)

Tumor Marker Translocation Qualitative by PCR: t (12, 21)

Tumor Marker Translocation Qualitative by PCR: t (18, 14)

Tumor Marker Translocation Qualitative by PCR: t (4, 11)

Tumor Marker Translocation Qualitative by PCR: t (8, 18)

Ureaplasma urealyticum, PCR

Y- Chromosome Deletion

Phil Chromosome or BCR-ABL by PCR ( Quantitative)

Specimen type :

Method :

Magnification (Resolution) :

Number of Metaphase Counted :

Number of Metaphase Analysed :

Interpretation :

XY Chromosomal Detection

JAK2 Mutation

Number of Metaphase karyotyped

Extra counts

Diploid number of chromosomes per cell

Sex chromosome constitution

Numerical chromosome aberration

Structural chromosome aberration

ISCN

Cytogenetics interpretation

MTHFR (C677T) Gene, PCR

MTHFR (A1298C) Gene, PCR

Factor V Leiden (G1691A) Gene, PCR

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