DAFTAR PENYAKIT GENETIK

A. Kelainan gen tunggal (single gene disorders)

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

2. Familial APOB, 2p24.1 Apolipoprotein B- Autosomal PCR with allele specific

hypercholesterolemia LDLR, 19p13.2 100 Dominant hybridization
PCSK9 1p32.3 Low-density Next-Generation
lipoprotein (NGS)/Massively parallel
receptor sequencing (MPS)
Proprotein  Qiagen QIAcube
convertase  Illumina MiSeq
subtilisin/kexin  Illumina Novaseq
type 9  Illumina NextSeq 500
Bi-directional Sanger
Sequence Analysis

 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

3. Cystic Fibrosis CFTR 7q31.2 Cystic fibrosis Autosomal Multiplex Ligation-dependent

transmembrane reccesive Probe Amplification (MLPA)
conductance  Applied Biosystems 3730
regulator capillary sequencing
instrument
CNV by qPCR
Bi-directional Sanger
Sequence Analysis
 ABI3700XL
 Automated sequencer
Next-Generation
(NGS)/Massively parallel
sequencing (MPS)
 Illumina MiSeq/NextSeq
 Illumina HiSeq™2000
system
 Illunima MiSeqDx
XTag®CysticFibrosis (CFTR) 60
KIT V.2
PCR with allele specific
hybridization
 Applied Biosystem - 2720
RFLP
 Applied Biosystem - 2720
Allele-specific primer
extension (ASPE)
 Luminex 200
VisCap Analysis
SNP Detection
 ABI3100
Oligonucleotide Ligation
Assay (OLA)

 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

Trinucleotide repeat by PCR

or Southern Blot
Multiplex Ligation-dependent
Probe Amplification (MLPA)
 Applied Biosystems 3130
capillary sequencing
instrument
Fluorescent quantitative PCR
RT-qPCR
 Applied Biosystems ViiA7
Real-Time PCR System
 WaferGen Bio-systems

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

 CytoScan XON Assay

Next generation sequencing

Uni-directional Sanger
sequencing
Trinucleotide repeat by PCR
or Southern Blot

6. Huntington disease HTT 4p16.3 Huntingtin Autosomal Southern Blotting

dominant Trinucleotide repeat by PCR
or Southern Blot
 Applied Biosystems 3730
capillary sequencing
instrument
 Lab-specific test design
 Applied Biosystems
SeqStudio
 Applied Biosystems
3130 Capillary
Sequencing System
 Applied Biosystems
3500xl Genetic
Analyzer
 Applied Biosystems
3130xl genetic analyser

PCR of fluorescently labelled

microsatellite markers
Bi-directional Sanger
Sequence Analysis
 Next-Generation
(NGS)/Massively parallel
sequencing (MPS)
Capillary electrophoresis
PCR with allele specific
hybridization
 Applied Biosystem –
2720
 Applied Biosystems
3730 capillary
sequencing
instrument
Chimeric PCR followed by size
analysis using capillary
electrophoresis.
CAG repeat amplification of
STR and capillary
electrophoresis
Analysis of fragment length
CAPILLARY ELECTROPHORESIS
GENOTYPING CAG REPEATS
PCR-RFLP with Southern
hybridization
PCR+ fragment length analysis

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

8. Adenosine deaminase ADA 20q13.12 Adenosine Autosomal

(ADA) deficiency deaminase reccesive,
Somatic
mosaicism
9. Smith-Lemli-Opitz DHCR7 11q13.4 7- Autosomal Metabolite levels
Syndrome (SLOS) dehydrocholesterol reccesive
reductase
10. Galactosemia

B. Kelainan Kromosom

No. Nama Penyakit Jenis Kelainan Kromosom Genetic Testing

1. Down syndrome
2. Cri du chat
3. Turner syndrome
4. Wolf-Hirschhorn syndrome
5. Jacobsen syndrome
6. Sindroma Edward's
7. Sindroma Klinefelter
8. Superfemale
9. Sindroma Patau
10. Charcot-Marie-Tooth disease type 1A

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