Duzen Laboratories Group Genetic Diseases Evaluation Center
Duzen Laboratories Group Genetic Diseases Evaluation Center
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Dysmorphology
genetic tests and test panels for congenital malformations and syndromes
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22q11 IGL
10q24 TLX1
2p12 IGK
1q21 CKS1B/(1q32-36) CDKN2C
7q34 TCRB
5q35.1 TLX3
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A
AARSKOG (FGD1 Gene)
Achondroplasia Mutation Analysis (FGFR3 Gene)
Adrenoleukodystrophy (ABCD1 Gene)
ALPORT Syndrome
ARX Mutation Analysis
AR Deletion/Duplication Analysis
AR (Androgen Receptor ) Analysis
AVPR2 Sequencing
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B
BECKWITH WIEDEMANN 11p15 Hypomethylation Analysis
BMP4 Gene Sequence Analysis
Brugada Syndrome
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C
Cadasil Disease (Exon 3, 4, 5, 6)
CHN1 Gene Sequence Analysis
Chromosome Analysis from Skin Biopsy
Chromosome Analysis from Solid Tissue Material
Chromosome Analysis in Peripheral Blood
Coffin-Lowry Syndrome (RSK2)
Congenital Nephrotic Syndrome, Type 1 (NPHS1 Gene)
CONNEXIN26 Mutations
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E
Ectodermal Dysplasia, Hypohidrotic (EDAR Gene Sequence Analysis)
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F
FGF23 Mutations
FGFR3 Sequence Analysis
FGFR2 sequencing
FGFR1 Sequencing
FOXL2 Mutation
Fragile X Syndrome (Cytogenetics)
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G
GCH1 Sequencing
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H
HOXA1 Gene Sequence Analysis
HRAS Mutations
Hypochondroplasia Mutation Analysis
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I
IGF1R Gene Sequencing
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K
Kartagener Syndrome Primary Ciliary Dyskinesia [CILD1 (DNAI1) Gene DNA Sequence Analysis]
KIF2A Gene DNA Sequence Analysis
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M
MARFAN Syndrome (FBN1 Gene DNA Sequence Analysis)
Mitomycin C Test
Molecular Karyotyping
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N
NF1 Deletion/Duplication Analysis
NF1 Genetic Test
NF2 Gene Sequencing
NIJMEGEN SYNDROME
NOONAN Syndrome
NORRIE Disease
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O
Osteochondrodysplasia (DYM Gene)
OSTEOGENESIS IMPERFECTA (COL1A1 Gene)
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P
PAX6 Gene Sequence Analysis
PEUTZ-JEGHERS Syndrome (STK11)
Podocin (NPHS2) DNA Sequence Analysis
Polycystic Kidney Disease (PKD) Type II (Adult)
Polycystic Kidney Disease (PKD) Type I (Adult)
PRRT2 Gene Sequencing
Pseudoxanthoma Elasticum Gene Test
Purine Nucleoside Phosphorylase Deficiency
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R
Rubinstein-Taybi Syndrome (CREBBP Gene Sequence Analysis)
Rubinstein-Taybi Syndrome (del 16p13.3) FISH
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S
SALL4 Gene Sequence Analysis
SCE Test
SDHB Gene Sequencing
SHOX Deletion
Silver-Russell 11p15 Hypomethylation
Silver-Russell mat UPD7
Single Chromosome Painting (FISH)
Single Chromosome Subtelomeric (FISH)
SOD1 Sequencing
SOS1 Gene Sequencing
Sotos NSD1 Gene Sequencing
Sotos Syndrome (FISH)
SOX9 Mutations
SURF1 Sequencing
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T
Translocation (14;20)(q32;q12)(IGH/MAFB) (FISH)
Translocation (6;14)(p21;q32)(CCND3/IGH) (FISH)
TUBB3 Gene Sequence Analysis
TWIST1 Deletion/Duplication Analysis
TWIST1 Mutation Analysis
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W
Waardenburg Syndrome
Whole Chromosome Painting (FISH) (46 chromosomes)
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(5)(q32) PDGFRB
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