DNA Relationship
Test Lists
• Mother
& Baby Check
• Relationship
Testing
• Sibling
Test
• Pre-Natal
DNA Test
• Ancestry
and Family Orign
Cancer Safe Test Lists
• Cancer
Safe® Test
• Smoker®
Test
• Ovarian
Safe® Test
• Breast
Safe® Test
• Colon
Safe® Test
List of Genetic Tests for Cancer
• BRCA 1 and
BRCA 2 (common 3 founder mutations)
• BRCA
1 mutation (24 exons by sequencing)
• BRCA
1 deletion/duplication
• BRCA
2 mutation (27 exons by sequencing)
• BRCA
2 deletion/duplication
• BRCA
1 and BRCA 2 mutation (by sequencing)
• Breast
Cancer Her 2 gene amplification- F.I.S.H
• MLH1
/MSH 2 deletion/duplication
• MLH1/MSH2
Micro satellite Instability (MSI)
• Bcr/Abl
dual probe (CML)- F.I.S.H
• Small
Cell Cancer of Lung- EGFR mutation- F.I.S.H
• Translocation
8/ 21 probe (Acute Myelogenous Leukemia)- F.I.S.H
• Translocation
8/ 14 (Burkitts Lymphoma, others)- F.I.S.H
• Melaris-
Genetic Test for Hereditary Melanoma
Genovation Test Lists:
• DetoxiGenomic®
Profile
• OsteoGenomic™
Profile
• NeuroGenomic™
Profile
• CardioGenomic®
Profile
• CardioGenomicPlus™
Profile
• EstroGenomic™
Profile
• ImmunoGenomic™
Profile
Cytogenetic Test Lists:
Karyotyping
• Abortus
Material (Long term culture)
• Amniotic
Fluid (Cell Culture)
• Ataxia Telengiectasia
- Bleomycin assay
• Blood Chromosomes
• Bone Marrow
chromosomes
• Chorionic
Villi samples (Long term culture)
• Cord Blood
Prenatal- Chromosomes
• Falconi’s
Anemia (Mitomycin Assay)
• Fibroblast
culture for other test
• Fragile
X Syndrome - Thymidine block
• Prader Willi
syndrome- microdeletion Chm 15
• Recurrent
Abortions, Husband and Wife
F.I.S.H. Cytogenetic studies
• Amniotic
Fluid (5 probes 18, 21, 13, X, Y)
• Amniotic
Fluid culture + F.I.S.H (5 probes)
• Chromosome
21/13 only or (X,Y,18)
• Chromosome
21
• Chromosome
16
• Chromosome
X & Y
Microdeletion Syndrome
• Williams
Syndrome
• Retinoblastoma
• Prader Willli's
Syndrome
• Miller Decker/Lis
gene
• Smith-Magenis
• Di George
Syndrome-Tuple 1 probe
• Di George
Syndrome-N25 probe
Leukemias
• Bcr/Abl
dual probe (CML)
• Translocation
8/ 21 probe (AML)
• Transloc.
15 / 17 probe (Ac. P.L)
• Breast cancer
Her 2 gene amplification
• Small cell
cancer of Lung - EGFR mutation
• Translocation
8/14 (Burkitts, others)
DNA Tests
• Achondroplasia
• Albinism-OCA
1 Tyrosinase gene sequencing/ Albinism-OCA 2 gene-Common
deletion
• Alkaptonuria-linkage
studies/ Prenatal Diagnosis-linkage
• Alpha 1
Anti Typsin (Z, S & M Mutation)
• Alpha thalassemia-deletions
• Aneuploidy
screening (21, 18, 13, X, Y, chm)
• Angelman
Syndrome (methylation test)
• Apert Syndrome
• Apo E Genotyping
• Ataxia Telangiectasia-carrier
screening by linkage
• Ataxia Telangiectasia-PND
by linkage
• Canavan
Disease- Asparto asylase (ASPA) gene sequencing
• Charcot
Marie Tooth disease 1/ HNPP (Del/Dupl. PMP gene)
• CMV-Cytomegalovirus-PCR
• Congenital
Adrenal Hyperplasia-Common deletion
• Congenital
Adrenal Hyperplasia- 5 mutations
• Congenital
Adrenal Hyperplasia-deletions by dosage test
• Congenital
Adrenal Hyperplasia-Prenatal diagnosis-linkage
• Congenital
Adrenal Hyperplasia-Cyp 21 gene sequencing
• Craniosynostosis
( non specific) C749-FGFR 3
• Crigler
Najjar Syn.- UGT1A1 gene sequencing
• Cruozon
disease: FGFR 2 mutation (Ser 354 Cys)
• Cystic
Fibrosis- Diagnosis (Delta 508 mutation)
• Cystic
Fibrosis- 254 Mutations + Poly T
• Cystic
Megalencephaly- MLC1 gene sequencing
• Cystic
Megalencephaly- Prenatal Diagnosis CVS
• Deafness
Connexin 26 gene-sequencing
• DMD
deletion testing - 18 exons
• DMD
79 exons- deletion/duplication test
• DMD-Dosage
studies in females
• DMD
- Prenatal diagnosis + maternal cell contamination
• Dystonia
(DYT 1 gene- common deletion)
• Ectodermal
dysplasia X- linked –PND by linkage +MCC
• Ectodermal
dysplasia X- linked, gene sequencing
• Epidermolysis
bullosa dystrophia (PND- by linkage)
• Factor
V Leiden
• Achondroplasia
• Familial
hypercholesterolemia (linkage, Prenatal)
• FGFR
3 gene sequencing (Ach, Hypochond, Thanatophoric dw)
• Folate
Polymorphism 3' 5 MTHFR ( 677C>T, 1298 A>C)
• Fragile
X Screen- PCR based
• Fragile
XA- methylation test
• Friedreich
Ataxia
• G-6-PD
one mutation
• Galatosemia
gene sequencing (GALT)
• Gaucher's
disease (4 common mutations)
• Gilbert's
disease (UGT1A1 Promoter polymorphism)
• Glycogen
storage 1a gene sequencing
• Hallorverden-Spantz
disease (PND by linkage)
• Hypochondroplasia
(Sequencing)
• Hemochromatosis
(2 mutations in HFE gene)
• Hemophilia
A/B, Carrier test
• Hemophilia
A/B, (Prenatal diagnosis)
• Herpes
Virus infection (PCR)
• Hunter
Syndrome - deletions
• Huntington
disease
• Hypochondroplasia-common
mutation C1620A in FGFR3
• Jak
2 mutation
• Krabbes
disease- common deletion
• Leb
Hered Optic Atrophy- 3 mutations
• Lowe
Syndrome - linkage studies/ family
• Lowe
Syndrome - Prenatal diagnosis-linkage
• Maternal
Cell Contamination
• Marfan
Syndrome-linkage studies
• Marfan
Syndrome - Prenatal diagnosis-linkage studies/ family
• MCAD
mutation (Medium chain acyl-coA dehyd)
• McArdle
disease (R49 X mutation, Sequencing)
• Merosin
deficiency-linkage/ PND
• Metaphyseal
Dysplasia-COL 10A gene sequencing
• Mitochondrial/
LEIGHS or NARP-3 mutations
• Mitochondrial
1/ MELAS + MERRF-5 mutations
• Mitochondrial
package (110, 111)
• Mitochondrial
genome- deletion/duplication
• Mytotonic
dystrophy- type 1-19q 13.3
• Mytotonic
dystrophy- type 2- 3q 21
• NCL
-infantile (2 mutation)
• NCL
-infantile (2 mutation)
• NCL
–Juvenile (Batten Dis) deletion
•
Neuroblastomatosis (linkage, PND)
•
Parkinson disease (Gly 19 ser mutation, by sequencing)
•
Parvo virus-PCR
•
Pelizaeus Merzbacher deletion/duplication
•
Polycystic Kidney dis (Aut. Rec. ARPKD) PND by linkage
•
Porphyria- Acute intermittent Common Mutation
•
Porphyria- Sequencing of Porphobilinogen gene
•
Prader Willi Syndrome-methylation test
•
Prothrombin gene polymorphism (G20210A)
•
Restrictive Dermopathy (Specific mutation by sequencing)
•
Retinoblastoma- deletion/duplication
•
Retinoblastoma (Prenatal diagnosis by linkage)
•
Retinoblastoma gene sequencing
•
Rett Syndrome MECP2 deletion/ duplication
•
Rett Syndrome MECP2 -Sequencing
•
Rh typing - (Rh+ or Rh-)
•
Rh typing on fetal DNA in maternal blood
•
Rubella (PCR)
•
Russel Silver Syndrome (UP Disomy)
•
Spinal Muscular atrophy, diagnosis
•
Spinal Muscular atrophy-PND
•
SMA Carrier Screening for deletion
•
Spinal Muscular atrophy- SMN 1 gene sequencing
•
Spino- Cerebellar ataxia -One type
•
Spino- Cerebellar ataxia -Two type
•
Spino- Cerebellar ataxia -package (1,2,3,6,7,8,12, 17
DRPLA)
•
Spinal bulbar muscular atrophy (SBMA) CAG repeats
•
Spondyloepiphyseal dysplasia X-linked gene sequencing
•
Sry+Amxy gene study (Y chromosome)
•
Subtelomeic deletions & duplications
•
Thalassemia-beta (Confirmation of known mutation)
•
Thalassemia-beta mutation study ( 5 common mutation)
•
Thalassemia-beta globin gene sequencing
•
Thalassemia-Prenatal diagnosis
•
Thalassemia-Prenatal diagnosis-Repeat at GRH
•
Thanotrophic dwarfism (common mutation)
•
Thanotrophic dwarfism sequencing
•
Thrombophilia Profile- 3 genes- MTHFR, Factor v Leiden,Prothrombin
•
Toxoplasmosis (PCR)
•
Waardenburg Syndrome Pax 3 gene sequencing
•
Waardenburg Shah syn- EDN3 gene-3 80A>G
•
Wilson linkage presymptomatic
•
Wilson diseases-PND by linkage
•
Wilson diseases-ATP7B gene sequencing
•
UGT1A1 * 28 Genotyping
•
X-linked ichthyosis (Deletion in STS gene)
•
XMN Polymorphism Gr gene (thalassemia child)
•
Y-Chromosome deletions (10)
HLA (DNA)
• AB
• AB+DR - Additional
person (beyond 2 persons)
• AB+DR - One person
• AB+DR - Two persons
• AB+DR+DQ
• B27
• DQ Alpha - Recurrent
abortions
• DQ Beta - Recurrent
abortions
• DQ Alpha & beta
- Recurrent abortions
• DR2-Narcolepsy,
M.S. Goodpasture syndrome
• DQ2/DQ8 Celiac
disease High risk genotype
• DR3- , Addison
disease, Derm Nerpc HLA-B5, Behcet's disease •
HLA- Y STR Polymorphism (for
two)
Detection
of Pathogens by DNA Macro-chips
Brain Infections
Meningitis Screening
Encephalitis Screening
Critical Care ( Icu)
: Septiceamia & Febrile Neutropenia
Post Transplant Infection
Septicaemia Screening
Febrile Neutropenia Screening
Eye Infections
Viral Retinitis Screening
Uveitis Screening
Keratocunjunctivitis Screening
Infectious Endopthalmitis Screening
Infections Of Obg & Infertility
Infertility Screening
Cervical Cancer Screening
Transplant - Solid Organ & Bone Marrow
Transplant Recipient & Transplant Donor
Tuberculosis - Pulmonary & Extrapulmonary
Pulmonary TB
Renal TB
Bone TB
Endometrial TB
Gene Based Diagnosis for Common
Diseases
• Gene based diagnosis
of Type 2 Diabetes-deCODE T2™
• Gene based diagnosis
of Myocardial Infarction-deCODE MI™
• Gene based diagnosis
of Glucoma-deCODE Glaucoma™
• Gene based diagnosis
of Prostate Cancer-deCODE ProCa™
• Gene based diagnosis
of Breast Cancer-deCODE Breast Cancer™
Personal Genome Scan
Neonatal Screening
Pre marital Screening
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