Beruflich Dokumente
Kultur Dokumente
No Diseases Gene Chromosome Defects Inheritance Biochemical Genetic Tests Molecular Genetic Tests
Changes Locations
1. Tay-Sachs HEXA 15q23 Beta- Autosomal Dimethylene Blue Binding Next-Generation
hexosaminidase Reccesive Quantitation (NGS)/Massively parallel
subunit alpha Thin Layer sequencing (MPS)
ChromatographyLiquid Trinucleotide repeat by PCR
chromatography–mass or Southern Blot
spectrometry (LC-MS) Next-Generation
MALDI TOF/TOF (NGS)/Massively parallel
Fluorometry sequencing (MPS)
PerkinElmer LS-55 Illumina MiSeq/NextSeq
Fluorescence Illumina HiSeq™2000
Spectrometers system
Bi-directional Sanger
Sequence Analysis
Applied Biosystems
3730 capillary
sequencing instrument
Applied Biosystems
3130 capillary
sequencing instrument
ION PGM
Comparative Genomic
Hybridization
PCR with allele specific
hybridization
Multiplex Ligation-dependent
Probe Amplification (MLPA)
SNP Detection
Fluorescent quantitative PCR
Trinucleotide repeat by PCR
or Southern Blot
RT-qPCR
Applied Biosystems ViiA7
Real-Time PCR System
Tetra-nucleotide repeat by
PCR or Southern Blot
KASP genotyping
Agarose gel electrophoresis
for the HEXA 7.6 kb deletion
Applied Biosystems
3730 capillary
sequencing instrument
Applied Biosystem
Genetic Analyzer
3130xl
Allele-specific primer
extension (ASPE)
Agena MassArray
System platform
Multiplex Ligation-
dependent Probe
Amplification (MLPA)
Applied Biosystems
3130 capillary
sequencing instrument
Comparative Genomic
Hybridization
Microarray
CytoScan XON Assay
Uni-directional Sanger
sequencing
Luminex 2000
Applied Biosystems
310
ARMS PCR
Comparative Genomic
Hybridization
Microarray
RT-qPCR
Other
4. Sickle cell anemia HBB 11p15.4 Hemoglobin Autosomal Electrophoresis Bi-directional Sanger
subunit beta reccesive Sequence Analysis
Applied Biosystems 3730
capillary sequencing
instrument
ABI3700XL
Applied Biosystems 3130
capillary sequencing
instrument
Applied biostystems
3130XL capillary
sequencing instrument
ARMS
PCR with allele specific
hybridization
PCR / RFLP
PCR-RFLP with Southern
hybridization
PCR- restriction enzyme
Next-Generation
(NGS)/Massively parallel
sequencing (MPS)
Illumina HiSeq™2000
system
Uni-directional Sanger
sequencing
Applied Biosystems 3730
capillary sequencing
instrument
Qiagen QIAcube
Tetra-nucleotide repeat by
PCR or Southern Blot
Applied Biosystems
3730 capillary
sequencing instrument
SNP Detection
Allele-specific primer
extension (ASPE)
Fluorescence resonance
energy transfer
5. Phenylketonuria (PKU) PAH 12q23.2 Phenylalanine-4- Autosomal Liquid chromatography- Bi-directional Sanger
hydroxylase reccesive tandem mass spectrometry Sequence Analysis
(LC-MS/MS) Applied Biosystems
Metabolite levels 3730 capillary
Tandem mass spectrometry sequencing
(MS/MS) instrument
Other Applied Biosystems
Gas chromatography–mass 3130 capillary
spectrometry (GC-MS) sequencing
Ion Exchange instrument
Chromatography Applied Biosystems
HPLC 3500 capillary
sequencing
instrument
Multiplex Ligation-dependent
Probe Amplification (MLPA)
Applied Biosystems
3130 capillary
sequencing
instrument
Comparative Genomic
Hybridization
PCR with allele specific
hybridization
Next-Generation
(NGS)/Massively parallel
sequencing (MPS)
Illumina Novaseq
Illumina HiSeq™2000
system
Ion Torrent PGM
Sequencer
Microarray
7. Duchenne muscular DMD Xp21.2-p21.1 Dystrophin X linked Western blot Comparative Genomic
dystrophy GK Xp21.2 Glycerol kinase Hybridization
IL1RAPL1 Xp21.3-p21.2 Interleukin-1 SNP Detection
receptor accessory Microarray
protein-like 1 Multiplex Ligation-dependent
NR0B1 Xp21.2 Nuclear receptor Probe Amplification (MLPA)
subfamily 0 group Applied Biosystems
B member 1 3500 capillary
sequencing
instrument
Next-Generation
(NGS)/Massively parallel
sequencing (MPS)
Iilumina Miseq
Bi-directional Sanger
Sequence Analysis
Applied Biosystems
3730 capillary
sequencing
instrument
B. Kelainan Kromosom
C. Kelainan Multifaktorial
No. Diseases Gene Involved Diagnosis Approach Genetic Testing
1. Alzheimers Disease
2. Breast Cancer
3. Colon Cancer
4. Hypothyroidism
5. Diabetes
6. Hipertensi
7. Arthritis
8. Ovarian Cancer
9. Schizophrenia
10. Epilepsy