Duzen Laboratories Group Genetic Diseases Evaluation Center
Duzen Laboratories Group Genetic Diseases Evaluation Center
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Neurogenetics
genetic tests and test panels for detecting genetic variations or mutations associated with neurological disorders and conditions
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A
Alzheimer’s Disease, APP Gene Exon 16 & 17 Genetic Analysis, Alzheimer Type 1
Alzheimer’s Disease, APP Gene Genetic Analysis, Alzheimer Type 1
Alzheimer’s Disease, PSEN2 Genetic Analysis, Alzheimer Type 4
Alzheimer’s Disease, PSEN1 Genetic Analysis, Alzheimer Type 3
ANGELMAN Methylation Analysis
Angelman Syndrome
ApoE Genotyping
ARX Mutation Analysis
Autism Spectrum Gene Panel
AVPR2 Sequencing
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C
Cadasil Disease (Exon 3, 4, 5, 6)
CDKL5 Gene Sequencing
CHN1 Gene Sequence Analysis
CLN Type 3
CLN Type 2
CLN Type 1
CLN Type 6
Coffin-Lowry Syndrome (RSK2)
CYP27A1 Gene Deletion/Duplication Analysis
CYP27A1 Sequencing
Cystinosis CTNS Gene Testing
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D
DMD Carrier Test
DMD Point Mutations
DMD/BMD Deletion Analysis
DRAVET Syndrome SCN1A
DYT-1 Mutation Analysis
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E
Epilepsy Gene Panel
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F
FOXG1 Syndrome
Fragile X Repeat Analysis
Fragile X Syndrome (Cytogenetics)
Fragile X Syndrome (PCR)
Friedreich Ataxia Mutation Analyis
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G
GAUCHER GBA Gene Sequencing
GCH1 Sequencing
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H
Hereditary Spastic Paraplegia
Hereditary Transthyretin-Related Amyloidosis
HNPP
HOXA1 Gene Sequence Analysis
HUNTER IDS Gene Sequencing
Huntington Disease Mutation Analysis
Hypokalemic Periodic Paralysis Genetic Analysis (CACNA1S 4 Mutations & SCN4A 5 Mutation)
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K
KCNQ2 Sequencing
KENNEDY DISEASE Genetic Test
KIF2A Gene DNA Sequence Analysis
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L
Lafora Disease (EPM2A Gene Sequence Analysis)
Lafora Disease (NHLRC1 Gene Sequence Analysis)
LHON Gene Analysis
Limb-Girdle 2D (CAPN3 Gene Sequence Analysis)
Limb-Girdle 2D (SGCA Gene Sequence Analysis)
Limb-Girdle 2E (SGCB)
Limb-Girdle 2F (SGCD)
Limb-Girdle Deletion Analysis
LMNA Gene Sequence Analysis (Emery-Dreifuss/Limb-Girdle Muscular Dystrophy)
Lowe Syndrome (OCRL1 Gene)
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M
Melas Syndrome (A3243G, T3271C, A3252G)
Melas Syndrome (MTTL1 Gene Sequence Analysis)
MERRF Syndrome (A8344G)
MERRF Syndrome (A8344G, T8356C, G8363A and G8361A) Analysis
Metachromatic Leukodystrophy (ARSA1 Gene)
Mitochondrial DNA Deletion Analysis (KS, PEARSON, PEO)
Molecular Karyotyping
Myotonic Dystrophy
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N
NF1 Deletion/Duplication Analysis
NF1 Genetic Test
NF2 Gene Sequencing
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P
Parkinson Juvenil, PARK2
Parkinson Type 7, DJ1
Parkinson Type 9, Kufor-Rakeb Syndrome
Parkinson’s Type 8, LRRK2
Parkinson’s Type 6, PINK1
Parkinson’s Type 1, SNCA
PAX6 Gene Sequence Analysis
PRADER-WILLI Methylation Analysis
Prader-Willi Syndrome (FISH)
Prion Disease Genetic Analysis
PRRT2 Gene Sequencing
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R
RETT Syndrome MECP2 Deletion Analysis
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S
SALL4 Gene Sequence Analysis
SCA Panel (Type 1,2,3,6,7)
SDHB Gene Sequencing
SGCG Gene Sequence Analysis
SMA Mutation Analysis
Smith-Lemli-Opitz Syndrome
SOD1 Sequencing
Sotos NSD1 Gene Sequencing
Sotos Syndrome (FISH)
Spinocerebellar Ataxia (SCA) Type 6
Spinocerebellar Ataxia (SCA) Type 1
Spinocerebellar Ataxia (SCA) Type 2
Spinocerebellar Ataxia (SCA) Type 7
Spinocerebellar Ataxia (SCA) Type 8
Spinocerebellar Ataxia (SCA) Type 3
Spinocerebellar Ataxia (SCA) Type 10
Spinocerebellar Ataxia (SCA) Type 12
Spinocerebellar Ataxia (SCA) Type 17
SURF1 Sequencing
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T
TUBB3 Gene Sequence Analysis
TWIST1 Deletion/Duplication Analysis
TWIST1 Mutation Analysis
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W
Whole Exome Sequencing (WES)
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