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Peutz-Jeghers Syndrome (STK11) [#4100]

21 Jun 2013
DNA Sequencing, MLPA, Oncogenetics
Comments: 0

Warfarin Drug Resistance [#2601]

17 Jun 2013
Pharmacogenetics, RT-PCR (melting point)
Comments: 0

Irinotecan Toxicity (UGT1A1) [#3623]

17 Jun 2013
DNA Sequencing, Pharmacogenetics
Comments: 0

CYP2D6 Mutation Analysis [#2219]

17 Jun 2013
Pharmacogenetics, RT-PCR (melting point)
Comments: 0

Plavix Effectiveness (CYP2C19) [#2323]

17 Jun 2013
Pharmacogenetics, RT-PCR (melting point)
Comments: 0

Thiopurine Pharmacogenetics Test (TPMT Gene) [#2457]

17 Jun 2013
Allele Specific PCR, PCR-RFLP, Pharmacogenetics
Comments: 0

Fluorouracil Toxicity [#2307]

17 Jun 2013
DNA Sequencing, PCR-RFLP, Pharmacogenetics, RT-PCR
Comments: 0

Thrombophilia – Cardiovascular Disease Genetic Susceptibility Panel [#4333]

17 Jun 2013
Predisposition/Risk Factors, Strip Test
Comments: 0

Rheumatoid Arthritis Susceptibility Panel [#3720]

17 Jun 2013
PCR, Reverse Dot Blot
Comments: 0

Prothrombin (Factor II) Mutation Analysis [#3105]

17 Jun 2013
Predisposition/Risk Factors, RT-PCR
Comments: 0

PON1 Polymorphism (163T>A, 575A>G) [#3314]

17 Jun 2013
PCR-RFLP, Predisposition/Risk Factors
Comments: 0

Plasminogen Activator Inhibitor 1 Polymorphism [#3119]

17 Jun 2013
DNA Sequencing, Predisposition/Risk Factors
Comments: 0

Osteoporosis Susceptibility Panel [#3721]

17 Jun 2013
PCR, Predisposition/Risk Factors, Reverse Dot Blot
Comments: 0

MTHFR C677T Mutation Analysis [#3106]

17 Jun 2013
Predisposition/Risk Factors, RT-PCR
Comments: 0

MTHFR A1298C Mutation Analysis [#3108]

17 Jun 2013
Predisposition/Risk Factors, RT-PCR
Comments: 0

Factor V Leiden Mutation [#3102]

17 Jun 2013
Predisposition/Risk Factors, RT-PCR
Comments: 0

Celiac Genetic Panel [#2574]

17 Jun 2013
PCR, Predisposition/Risk Factors, Reverse Dot Blot
Comments: 0

Bradykinin Receptor Polymorphism [#3141]

17 Jun 2013
PCR-RFLP, Predisposition/Risk Factors
Comments: 0

Antithrombin III [#2169]

17 Jun 2013
DNA Sequencing, Predisposition/Risk Factors
Comments: 0

Angiotensinogen Polymorphism [#3145]

17 Jun 2013
PCR-RFLP, Predisposition/Risk Factors
Comments: 0

Angiotensin 2 Type 1 Receptor Polymorphism [#3143]

17 Jun 2013
PCR-RFLP, Predisposition/Risk Factors
Comments: 0

Aldosterone Synthase Polymorphism [#3140]

17 Jun 2013
PCR-RFLP, Predisposition/Risk Factors
Comments: 0

ACTN3 Mutation Analysis [#5210]

17 Jun 2013
PCR-RFLP, Predisposition/Risk Factors
Comments: 0

ACE I/D Polymorphism [#3110]

17 Jun 2013
PCR-RFLP, Predisposition/Risk Factors
Comments: 0

A-Adducin Polymorphisms [#3142]

17 Jun 2013
PCR-RFLP, Predisposition/Risk Factors
Comments: 0

Trisomy 17 [#3057]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Trisomy 12 [#3087]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Trisomy 11 [#3906]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Trisomy 10 [#3083]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Trisomy 6 [#4643]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Monosomy 5/ Deletion 5q [#3077]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Trisomy 4 [#3056]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Translocation (15;17)(q22;q21) (PCR) [#3130]

17 Jun 2013
Hemato Oncogenetics, RT-PCR
Comments: 0

Translocation (15;17)(q22;q21) (FISH) [#3051]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Translocation (14;18)(q32;q21) (FISH) [#3050]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Translocation (14;16)(q32;q23) (MAF/IGH) FISH [#3641]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Translocation (12;21)(p12;q22) (FISH) [#3049]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Translocation (12;21)(p12;q22) (PCR) [#1995]

17 Jun 2013
Hemato Oncogenetics, RT-PCR
Comments: 0

Translocation (11;19)(q23;p13.1) (MLL/ENL) FISH [#4639]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Translocation (11;18)(q21;q21) (API2/MALT1) FISH [#4637]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Translocation (11;14)(q13;q32) (FISH) [#3048]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Translocation (9;22)(q34;q11.2)(PCR) [#3044]

17 Jun 2013
Hemato Oncogenetics, RT-PCR
Comments: 0

Translocation (9;22)(q34;q11.2) (FISH) [#3043]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Translocation (9;11)(p22;q23) (AF9/MLL) FISH [#4638]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Translocation (8;21)(q22; q22) (PCR) [#3129]

17 Jun 2013
Hemato Oncogenetics, RT-PCR
Comments: 0

Translocation (8;21)(q22; q22) (FISH) [#3047]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Translocation (8;14)(q24; q32) (FISH) [#3069]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Translocation (6;9)(p22;q34) (DEK/NUP214) FISH [#3642]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Translocation (5;12)(q33;p13) (PCR) [#2920]

17 Jun 2013
Hemato Oncogenetics, Nested PCR
Comments: 0

Translocation (4;14)(p16;q32)(FISH) [#3045]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Translocation (4;11)(q21;q23) (MLL/AFF1 ) (PCR) [#3039]

17 Jun 2013
Hemato Oncogenetics, Nested PCR
Comments: 0

Translocation (4;11)(q21;q23) (MLL/AFF1 ) FISH [#3643]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Translocation (1;19)(q23;p13) (TCF3/PBX1) (PCR) [#6019]

17 Jun 2013
Hemato Oncogenetics, Nested PCR
Comments: 0

Translocation (1;19)(q23;p13) (TCF3/PBX1) FISH [#3644]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

T-Cell Clonality Test [#3920]

17 Jun 2013
Fragment Analysis, Hemato Oncogenetics, PCR
Comments: 0

RARA (17q21) Rearrangements [#3910]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Pediatric MDS Panel [#3084]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Pediatric AML Panel [#3078]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Pediatric ALL Panel [#3086]

17 Jun 2013
FISH, Hemato Oncogenetics, RT-PCR
Comments: 0

NPM1 Mutation (MUTA, MUTB, MUTD) [#3498]

17 Jun 2013
Hemato Oncogenetics, RT-PCR (melting point)
Comments: 0

Non-Hodgkin Lymphoma Panel [#3076]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Monosomy / Trisomy 8 [#3054]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Monosomy / Trisomy 7 [#3055]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

MM Panel [#3073]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

MDS Panel [#3070]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Chromosome Analysis in Peripheral Blood (Leukemia) [#3035]

17 Jun 2013
Cytogenetics, Hemato Oncogenetics
Comments: 0

Chromosome Analysis in Bone Marrow Aspiration Material [#3033]

17 Jun 2013
Cytogenetics, Hemato Oncogenetics
Comments: 0

CML Panel [#3043]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

CLL Panel [#3066]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Chimerism (Transplantation from a different sex) [#1944]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Chimerism (Transplantation from the same sex) [#1940]

17 Jun 2013
Fragment Analysis, Hemato Oncogenetics
Comments: 0

JAK2 V617F [#6297]

17 Jun 2013
Hemato Oncogenetics, RT-PCR (melting point)
Comments: 0

JAK2 Exon 12 Mutations [#2780]

17 Jun 2013
DNA Sequencing, Hemato Oncogenetics
Comments: 0

Inversion (16)(p13;q22) / Translocation (16;16)(p13;q22) (FISH) [#3052]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Inversion (16)(p13;q22) / Translocation (16;16)(p13;q22) (PCR) [#3134]

17 Jun 2013
Hemato Oncogenetics, qRT-PCR
Comments: 0

Inversion (3)(q21;q26.2) / Translocation (3;3)(q21;q26.2) FISH [#3648]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Imatinib Resistance Sequence Analysis [#4810]

17 Jun 2013
DNA Sequencing, Hemato Oncogenetics, Pharmacogenetics
Comments: 0

FLT3 Mutations [#2313]

17 Jun 2013
DNA Sequencing, Hemato Oncogenetics, PCR-RFLP, RT-PCR
Comments: 0

FIP1L1/PDGFRA Fusion, del 4q12 (RT-PCR) [#3912]

17 Jun 2013
Hemato Oncogenetics, RT-PCR
Comments: 0

CEBPA Gene Mutation [#3499]

17 Jun 2013
Hemato Oncogenetics, RT-PCR (melting point)
Comments: 0

BCL6 (3q27) Rearrangement [#3905]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

BCL2 (18q21) Rearrangement [#4636]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

B-Cell Clonality Test [#3921]

17 Jun 2013
Fragment Analysis, Hemato Oncogenetics, PCR
Comments: 0

AML Panel [#3067]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

ALL Panel [#3068]

17 Jun 2013
FISH, Hemato Oncogenetics, RT-PCR
Comments: 0

20q13.2 (LSI ZNF217) Deletion [#3530]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

20q12 Deletion [#3064]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

17p13.1 Deletion [#3063]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

14q32 Deletion [#3232]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

13q14.3 (D13S319) Deletion [#3532]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

13q14.3 Deletion [#3062]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

11q23 MLL Mutations [#3082]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

11q22.3 Deletion [#3019]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

9p21 (CDKN2A) Deletion [#3065]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

9q34 Deletion [#2383]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

7q22 / 7q35 (MDS) Deletion [#3909]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

7q31 Deletion [#3059]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

6q23 (MYB) Deletion [#3245]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

5q33-q34 (CSF1R) Deletion [#3908]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

5q31 Deletion [#3060]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

4q Rearrangement (FIP1LI/PDGFRA) (FISH) [#6021]

17 Jun 2013
FISH, Hemato Oncogenetics
Comments: 0

Wilms Tumor (WT1 Gene) Sequence Analysis [#3620]

17 Jun 2013
DNA Sequencing, Oncogenetics
Comments: 0

Trisomy 6 [#4643]

17 Jun 2013
FISH, Oncogenetics
Comments: 0

TP53 Gene Sequence Analysis [#2390]

17 Jun 2013
DNA Sequencing, Oncogenetics
Comments: 0

RREB1 (6q25) Amplifications [#4641]

17 Jun 2013
FISH, Oncogenetics
Comments: 0

ROS1 Amplifications [#4645]

17 Jun 2013
FISH, Oncogenetics
Comments: 0

PTEN Point Mutations [#3735]

17 Jun 2013
DNA Sequencing, Oncogenetics
Comments: 0

PTEN Deletion [#4642]

17 Jun 2013
FISH, Oncogenetics
Comments: 0

PCA3 [#3410]

17 Jun 2013
Oncogenetics, qRT-PCR
Comments: 0

NRAS Mutations [#3405]

17 Jun 2013
DNA Sequencing, Oncogenetics
Comments: 0

Microsatellite Instability [#2242]

17 Jun 2013
Oncogenetics, PCR
Comments: 0

Bladder Cancer Genetic Screen (UROVYSION) [#3801]

16 Jun 2013
FISH, Oncogenetics
Comments: 0

MYCN (2p24) Amplifications [#4321]

16 Jun 2013
FISH, Oncogenetics
Comments: 0

MYC (8Q24) Rearrangement [#4634]

16 Jun 2013
FISH, Hemato Oncogenetics, Oncogenetics
Comments: 0

MGMT Gene Methylation Analysis [#3467]

16 Jun 2013
Methylation Analysis, Oncogenetics
Comments: 0

MET Amplifications [#4644]

16 Jun 2013
FISH, Oncogenetics
Comments: 0

MDR1 Mutation [#1992]

16 Jun 2013
Oncogenetics, PCR, Pharmacogenetics
Comments: 0

KRAS Mutations [#4189]

16 Jun 2013
DNA Sequencing, Oncogenetics, Pharmacogenetics
Comments: 0

HER2/NEU/TopoIIa [#2386]

16 Jun 2013
FISH, Oncogenetics
Comments: 0

FGFR1 Amplifications [#4640]

16 Jun 2013
FISH, Oncogenetics
Comments: 0

Familial Adenomatous Polyposis [#2179]

16 Jun 2013
DNA Sequencing, Oncogenetics, PCR
Comments: 0

EWS-FLI1 t(11;22) (PNET) RT-PCR [#3911]

16 Jun 2013
Oncogenetics, RT-PCR
Comments: 0

EGFR Gene Mutations [#2452]

16 Jun 2013
DNA Sequencing, Oncogenetics, Pharmacogenetics
Comments: 0

EGFR Amplifications [#4014]

16 Jun 2013
FISH, Oncogenetics
Comments: 0

E-Cadherin Mutations [#2193]

16 Jun 2013
DNA Sequencing, Oncogenetics
Comments: 0

CKIT Mutations [#2324]

16 Jun 2013
DNA Sequencing, Oncogenetics, Pharmacogenetics
Comments: 0

CCND1 (11Q13) Rearrangement [#4635]

16 Jun 2013
FISH, Hemato Oncogenetics, Oncogenetics
Comments: 0

BRAF Gene V600E Mutation [#2464]

16 Jun 2013
DNA Sequencing, Oncogenetics, Pharmacogenetics
Comments: 0

BRCA1 and BRCA2 Gene Mutations [#3209]

16 Jun 2013
DNA Sequencing, Oncogenetics
Comments: 0

ALK (2p23) Mutations [#2981]

16 Jun 2013
FISH, Oncogenetics
Comments: 0

Hereditary NonPolyposis Colorectal Cancer (HNPCC) [#4323]

16 Jun 2013
DNA Sequencing, Oncogenetics
Comments: 0

19q Deletion [#3733]

16 Jun 2013
FISH, Oncogenetics
Comments: 0

1p Deletion [#3732]

16 Jun 2013
FISH, Oncogenetics
Comments: 0

STX11 (Syntaxin 11) Gene Sequence Analysis [#3617]

16 Jun 2013
DNA Sequencing, Hematogenetics
Comments: 0

Perforin Gene Sequence Analysis [#3615]

16 Jun 2013
DNA Sequencing, Hematogenetics
Comments: 0

MUNC13-4 (UNC13) Gene Sequence Analysis [#3614]

16 Jun 2013
DNA Sequencing, Hematogenetics
Comments: 0

MPL Mutation Analysis [#3194]

16 Jun 2013
DNA Sequencing, Hematogenetics
Comments: 0

Kostmann Disease (HAX1 Gene) [#3635]

16 Jun 2013
DNA Sequencing, Hematogenetics
Comments: 0

HBB Mutation Analysis [#3121]

16 Jun 2013
Hematogenetics, PCR-RFLP
Comments: 0

Congenital Neutropenia (ELANE Gene) [#3634]

16 Jun 2013
DNA Sequencing, Hematogenetics
Comments: 0

Beta-Thalassemias (Hemoglobin Beta Gene) Sequence Analysis [#3114]

16 Jun 2013
DNA Sequencing, Hematogenetics
Comments: 0

Alpha Thalassemia Mutation Screening [#3131]

16 Jun 2013
Hematogenetics, Strip Test
Comments: 0

Wilson Disease Genetic Analysis [#2548]

16 Jun 2013
Multisystem Diseases, PCR-RFLP
Comments: 0

Cystic Fibrosis Mutation Analysis [#3091]

16 Jun 2013
Multisystem Diseases, Strip Test
Comments: 0

Cystic Fibrosis, Common Mutations (Exon 4,7,9,10,11) Sequence Analysis [#2672]

16 Jun 2013
DNA Sequencing, Multisystem Diseases
Comments: 0

Cystic Fibrosis (CFTR) Whole Gene Sequence Analysis [#2676]

16 Jun 2013
Multisystem Diseases, Strip Test
Comments: 0

HLA-B51 [#2191]

16 Jun 2013
Multisystem Diseases, PCR
Comments: 0

HLA-B27 (PCR) [#6114]

16 Jun 2013
Multisystem Diseases, PCR-RFLP
Comments: 0

Hemochromatosis (18 Mutations) [#2775]

16 Jun 2013
Multisystem Diseases, PCR, Reverse Dot Blot
Comments: 0

Hemochromatosis (2 Mutations) [#2196]

16 Jun 2013
Multisystem Diseases, PCR-RFLP
Comments: 0

Gilbert Syndrome – UGT1A1 Gene 5’-(TA) Repeat Number [#3624]

16 Jun 2013
DNA Sequencing, Multisystem Diseases
Comments: 0

Familial Mediterranean Fever Mutation Analysis [#3122]

16 Jun 2013
Multisystem Diseases, Strip Test
Comments: 0

Familial Mediterranean Fever Gene Sequence Analysis [#3115]

16 Jun 2013
DNA Sequencing, Multisystem Diseases
Comments: 0

CIAS1 Gene Mutations [#1849]

16 Jun 2013
DNA Sequencing, Multisystem Diseases
Comments: 0

Alpha-1-Antitrypsin Genotype Determination (M, S, Z Alleles) [#3111]

16 Jun 2013
Multisystem Diseases, Strip Test
Comments: 0

RET Mutations [#3404]

16 Jun 2013
Endocrinology Genetics, Oncogenetics, PCR-RFLP
Comments: 0

Congenital Adrenal Hyperplasia (CYP21A2 Gene) [#3267]

16 Jun 2013
Endocrinology Genetics, PCR-RFLP
Comments: 0

11-Beta-Hydroxylase Gene (CYP11B1) Mutations [#3312]

16 Jun 2013
DNA Sequencing, Endocrinology Genetics
Comments: 0

5 Alpha Reductase Deficiency (Whole Gene Sequence Analysis) [#2637]

16 Jun 2013
DNA Sequencing, Endocrinology Genetics
Comments: 0

Tay-Sachs Disease Genetic Test (HEXA Gene) [#4827]

16 Jun 2013
DNA Sequencing, Inborn Errors of Metabolism
Comments: 0

Propionicacidemia Genetic Test (PCCB Gene) [#2236]

16 Jun 2013
DNA Sequencing, Inborn Errors of Metabolism
Comments: 0

Propionicacidemia Genetic Test (PCCA Gene) [#2236]

16 Jun 2013
DNA Sequencing, Inborn Errors of Metabolism
Comments: 0

Niemann-Pick Genetic Test (SMPD1 Gene) [#3630]

16 Jun 2013
DNA Sequencing, Inborn Errors of Metabolism
Comments: 0

Niemann-Pick Genetic Test (NPC2 Gene) [#3630]

16 Jun 2013
DNA Sequencing, Inborn Errors of Metabolism
Comments: 0

Niemann-Pick Genetic Test (NPC1 Gene) [#3630]

16 Jun 2013
DNA Sequencing, Inborn Errors of Metabolism
Comments: 0

Methylmalonic Aciduria Genetic Test (MUT Gene) [#2931]

16 Jun 2013
DNA Sequencing, Inborn Errors of Metabolism
Comments: 0

Isovaleric Acidemia Genetic Test (IVD Gene) [#2930]

16 Jun 2013
DNA Sequencing, Inborn Errors of Metabolism
Comments: 0

GM1-Gangliosidosis (GLB1 Gene) [#3629]

16 Jun 2013
DNA Sequencing, Inborn Errors of Metabolism
Comments: 0

Galactosemia Genetic Analysis (GALT Gene) [#4821]

16 Jun 2013
DNA Sequencing, Inborn Errors of Metabolism
Comments: 0

Hereditary Fructose Intolerance (ALDOB Gene) [#2227]

16 Jun 2013
DNA Sequencing, Inborn Errors of Metabolism
Comments: 0

Phenylketonuria Gene Sequence Analysis (PAH Gene) [#3370]

16 Jun 2013
DNA Sequencing, Inborn Errors of Metabolism
Comments: 0

Fanconi-Bickel Syndrome (SLC2A2 Gene) [#2782]

16 Jun 2013
DNA Sequencing, Inborn Errors of Metabolism
Comments: 0

Fabry Syndrome (GLA Gene Sequence Analysis) [#4006]

16 Jun 2013
DNA Sequencing, Inborn Errors of Metabolism
Comments: 0

Canavan Disease Genetic Analysis (ASPA Gene) [#3193]

16 Jun 2013
DNA Sequencing, Inborn Errors of Metabolism
Comments: 0

Biotinidase deficiency (BTD Gene) [#4823]

16 Jun 2013
DNA Sequencing, Inborn Errors of Metabolism
Comments: 0

Maple Syrup Urine Disease (DBT Gene) [#2929]

16 Jun 2013
DNA Sequencing, Inborn Errors of Metabolism
Comments: 0

Maple Syrup Urine Disease BCKDHB Gene) [#2929]

16 Jun 2013
DNA Sequencing, Inborn Errors of Metabolism
Comments: 0

Maple Syrup Urine Disease (BCKDHA Gene) [#2929]

16 Jun 2013
DNA Sequencing, Inborn Errors of Metabolism
Comments: 0

Wolf-Hirschhorn Syndrome (FISH) [#5794]

16 Jun 2013
FISH, Neurogenetics
Comments: 0

Spinocerebellar Ataxia (SCA) Type 17 [#4633]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Spinocerebellar Ataxia (SCA) Type 12 [#4632]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Spinocerebellar Ataxia (SCA) Type 10 [#4631]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Spinocerebellar Ataxia (SCA) Type 8 [#4630]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Spinocerebellar Ataxia (SCA) Type 7 [#3917]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Spinocerebellar Ataxia (SCA) Type 6 [#3916]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Spinocerebellar Ataxia (SCA) Type 3 [#3915]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Spinocerebellar Ataxia (SCA) Type 2 [#3913]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Spinocerebellar Ataxia (SCA) Type 1 [#3914]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Smith-Magenis Syndrome [#5782]

16 Jun 2013
FISH, Neurogenetics
Comments: 0

SMA Carrier Test [#6120]

16 Jun 2013
MLPA, Neurogenetics
Comments: 0

SMA Mutation Analysis [#3098]

16 Jun 2013
Neurogenetics, PCR-RFLP
Comments: 0

SGCG Gene Sequence Analysis [#3633]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

SCA Panel (Type 1,2,3,6,7) [#3619]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

RETT Syndrome MECP2 Deletion Analysis [#3313]

16 Jun 2013
MLPA, Neurogenetics
Comments: 0

RETT Syndrome [#6118]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Prion Disease Genetic Analysis [#4629]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Prader-Willi Syndrome (FISH) [#4811]

16 Jun 2013
FISH, Neurogenetics
Comments: 0

Parkinson Type 9, Kufor-Rakeb Syndrome [#4622]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Parkinson Type 8, LRRK2 [#4622]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Parkinson Type 7, DJ1 [#4621]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Parkinson Type 6, PINK1 [#4620]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Parkinson Type 1, SNCA [#4619]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Parkinson Juvenil, PARK2 [#4618]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

CLN Type 3 [#3612]

16 Jun 2013
Neurogenetics, qRT-PCR
Comments: 0

CLN Type 2 [#3611]

16 Jun 2013
Neurogenetics, qRT-PCR
Comments: 0

CLN Type 1 [#3610]

16 Jun 2013
Neurogenetics, qRT-PCR
Comments: 0

Myotonic Dystrophy [#3609]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Mitochondrial DNA Deletion Analysis (KS, PEARSON, PEO) [#4628]

16 Jun 2013
MLPA, Neurogenetics
Comments: 0

Miller-Dieker Syndrome (FISH) [#5784]

16 Jun 2013
FISH, Neurogenetics
Comments: 0

Metachromatic Leukodystrophy (ARSA1 Gene) [#3442]

16 Jun 2013
DNA Sequencing, Inborn Errors of Metabolism, Neurogenetics
Comments: 0

MERRF Syndrome (A8344G, T8356C, G8363A and G8361A) Analysis [#4627]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

MERRF Syndrome (A8344G) [#4626]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Mental Retardation Panel [#5811]

16 Jun 2013
FRAX PCR, Neurogenetics
Comments: 0

Melas Syndrome (MTTL1 Gene Sequence Analysis) [#4625]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Melas Syndrome (A3243G, T3271C, A3252G) [#4624]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Melas Syndrome (A3243G) [#6117]

16 Jun 2013
Neurogenetics, PCR-RFLP
Comments: 0

LMNA Gene Sequence Analysis (Emery-Dreifuss/Limb Girdle muscular dystrophy) [#3632]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Limb-Girdle Deletion Analysis [#3299]

16 Jun 2013
MLPA, Neurogenetics
Comments: 0

Limb-Girdle 2D (SGCA Gene Sequence Analyis) [#4007]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Lafora Disease (NHLRC1 Gene Sequence Analysis) [#4617]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Lafora Disease (EPM2A Gene Sequence Analysis) [#4616]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Isolated Lissencephaly Sequence [#5786]

16 Jun 2013
FISH, Neurogenetics
Comments: 0

Huntington Disease Mutation Analysis [#2423]

16 Jun 2013
DNA Sequencing, Neurogenetics, PCR
Comments: 0

Hypokalemic periodic paralysis Genetic Analysis (CACNA1S 4 Mutations & SCN4A 5 Mutation) [#4615]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Friedreich Ataxia Mutation Analyis [#2419]

16 Jun 2013
Neurogenetics, PCR
Comments: 0

HNPP [#2164]

16 Jun 2013
Neurogenetics, PCR-RFLP
Comments: 0

Fragile X Syndrome (Cytogenetics) [#4804]

16 Jun 2013
Neurogenetics, Tissue Culture
Comments: 0

Fragile X Syndrome (PCR) [#4803]

16 Jun 2013
Neurogenetics, PCR
Comments: 0

DYT-1 Mutation Analysis [#3191]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

DMD Carrier Test [#3622]

16 Jun 2013
MLPA, Neurogenetics
Comments: 0

DMD Point Mutations [#3734]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

DMD/BMD Deletion Analysis [#3096]

16 Jun 2013
Neurogenetics, PCR
Comments: 0

DMD/BMD Linkage Analysis [#3097]

16 Jun 2013
Linkage Analysis, Neurogenetics
Comments: 0

Charcot Marie Tooth 1A (PMP22) [#6110]

16 Jun 2013
Neurogenetics, PCR-RFLP
Comments: 0

ApoE Genotyping [#1438]

16 Jun 2013
Neurogenetics, Predisposition/Risk Factors, Reverse Dot Blot
Comments: 0

Angelman Syndrome [#4812]

16 Jun 2013
FISH, Neurogenetics
Comments: 0

Alzheimer Disease, PSEN2 Genetic Analysis, Alzheimer Type 4 [#4614]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Alzheimer Disease, PSEN1 Genetic Analysis, Alzheimer Type 3 [#4613]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Alzheimer Disease, APP Gene Genetic Analysis, Alzheimer Type 1 [#4612]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

Alzheimer Disease, APP Gene Exon 16 & 17 Genetic Analysis, Alzheimer Type 1 [#4611]

16 Jun 2013
DNA Sequencing, Neurogenetics
Comments: 0

MFRP Gene Sequence Analysis [#3491]

16 Jun 2013
Ophthalmogenetics, qRT-PCR
Comments: 0

LHON Gene Analysis [#3608]

16 Jun 2013
Neurogenetics, Ophthalmogenetics, RT-PCR
Comments: 0

Y Chromosome Microdeletion Analysis [#790]

16 Jun 2013
Multiplex PCR, Reproductive Genetics
Comments: 0

Subtelomeric Deletion (FISH) [#5810]

16 Jun 2013
FISH, Reproductive Genetics
Comments: 0

SRY Deletion (FISH) [#5798]

16 Jun 2013
FISH, Reproductive Genetics
Comments: 0

Sperm DNA Damage and Genetic Screening [#2730]

16 Jun 2013
FISH, Reproductive Genetics, Tunnel
Comments: 0

Sperm DNA Damage [#2729]

16 Jun 2013
Reproductive Genetics, Tunnel
Comments: 0

Aneuploidy Screening with Rapid FISH [#5803]

16 Jun 2013
Rapid FISH, Reproductive Genetics
Comments: 0

RhD Genotyping in Peripheral Blood [#6405]

16 Jun 2013
Reproductive Genetics, Semiquantitative PCR
Comments: 0

Determination of Maternal Contamination [#3120]

16 Jun 2013
Fragment Analysis, Reproductive Genetics
Comments: 0

Chromosome Analysis in Chorionic villus sampling (CVS) [#3205]

16 Jun 2013
Cytogenetics, Reproductive Genetics, Tissue Culture
Comments: 0

Cystic Fibrosis CFTR Delta F508 Mutation [#2671]

16 Jun 2013
Reproductive Genetics, Strip Test
Comments: 0

Kallmann’s Syndrome [#6123]

16 Jun 2013
FISH, Reproductive Genetics
Comments: 0

Chromosome Analysis in Fetal Blood [#3203]

16 Jun 2013
Cytogenetics, Reproductive Genetics
Comments: 0

Rapid Detection of Trisomy (QF-PCR) [#3204]

16 Jun 2013
QF-PCR, Reproductive Genetics
Comments: 0

Chromosome Analysis in Abortion/Miscarriage Material [#2273]

16 Jun 2013
Cytogenetics, Reproductive Genetics, Tissue Culture
Comments: 0

RhD Genotyping in Amniotic Fluid [#6404]

16 Jun 2013
Reproductive Genetics, Semiquantitative PCR
Comments: 0

Chromosome Analysis in Amniotic Fluid with Rapid QF-PCR Result [#5470]

16 Jun 2013
QF-PCR, Reproductive Genetics
Comments: 0

Chromosome Analysis in Amniotic Fluid [#3201]

16 Jun 2013
Reproductive Genetics
Comments: 0

Chromosome Analysis in Amniotic Fluid with Rapid FISH Result [#5472]

16 Jun 2013
Cytogenetics, Reproductive Genetics, Tissue Culture
Comments: 0

Williams Syndrome (FISH) [#5792]

16 Jun 2013
Dsymorphology, FISH
Comments: 0

Waardenburg Syndrome [#3182]

16 Jun 2013
DNA Sequencing, Dsymorphology
Comments: 0

Velocardiofacial Syndrome (FISH) [#5790]

16 Jun 2013
Dsymorphology, FISH
Comments: 0

TWIST1 Mutation Analysis [#3230]

16 Jun 2013
Dsymorphology, Neurogenetics
Comments: 0

Whole Chromosome Painting (FISH) (46 chromosomes) [#2137]

16 Jun 2013
Dsymorphology, FISH
Comments: 0

TUBB3 Gene Sequence Analysis [#3493]

16 Jun 2013
DNA Sequencing, Dsymorphology, Neurogenetics, Ophthalmogenetics
Comments: 0

Single Chromosome Subtelomeric (FISH) [#2770]

16 Jun 2013
Dsymorphology, FISH
Comments: 0

Single Chromosome Painting (FISH) [#3800]

16 Jun 2013
Dsymorphology, FISH
Comments: 0

Steroid Sulfatase Deficiency (FISH) [#6132]

16 Jun 2013
Dsymorphology, FISH
Comments: 0

SOX9 Mutations [#4030]

16 Jun 2013
DNA Sequencing, Dsymorphology
Comments: 0

Sotos Syndrome (FISH) [#2391]

16 Jun 2013
Dsymorphology, FISH, Neurogenetics
Comments: 0

Chromosome Analysis from Solid Tissue Material [#2255]

16 Jun 2013
Cytogenetics, Dsymorphology, Tissue Culture
Comments: 0

Silver-Russell mat UPD7 [#3627]

16 Jun 2013
Dsymorphology, PCR
Comments: 0

Silver-Russell 11p15 Hypomethylation [#3626]

16 Jun 2013
Methylation Analysis, MLPA
Comments: 0

SHOX Deletion [#3621]

16 Jun 2013
Dsymorphology, Endocrinology Genetics, FISH
Comments: 0

SCE Test [#3391]

16 Jun 2013
Cytogenetics, Dsymorphology
Comments: 0

SALL4 Gene Sequence Analysis [#3494]

16 Jun 2013
DNA Sequencing, Dsymorphology, Neurogenetics, Ophthalmogenetics
Comments: 0

RUBINSTEIN-TAYBI SYNDROME (del 16p13.3) FISH [#3638]

16 Jun 2013
Dsymorphology, FISH
Comments: 0

RUBINSTEIN-TAYBI SYNDROME (CREBBP Gene Sequence Analysis) [#3616]

16 Jun 2013
DNA Sequencing, Dsymorphology
Comments: 0

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY [#2174]

16 Jun 2013
DNA Sequencing, Dsymorphology
Comments: 0

Podocin (NPHS2) DNA Sequence Analysis [#2462]

16 Jun 2013
DNA Sequencing, Dsymorphology
Comments: 0

Chromosome Analysis in Peripheral Blood [#3202]

16 Jun 2013
Cytogenetics, Dsymorphology, Reproductive Genetics
Comments: 0

PAX6 Gene Sequence Analysis [#3497]

16 Jun 2013
DNA Sequencing, Dsymorphology, Neurogenetics, Ophthalmogenetics
Comments: 0

Osteochondrodysplasia (DYM Gene) [#3637]

16 Jun 2013
DNA Sequencing, Dsymorphology
Comments: 0

OSTEOGENESIS IMPERFECTA (COL1A1 Gene) [#2781]

16 Jun 2013
DNA Sequencing, Dsymorphology
Comments: 0

NORRIE Disease [#2118]

16 Jun 2013
DNA Sequencing, Dsymorphology
Comments: 0

NOONAN Syndrome [#4825]

16 Jun 2013
DNA Sequencing, Dsymorphology
Comments: 0

NIJMEGEN SYNDROME [#2425]

16 Jun 2013
Dsymorphology, PCR
Comments: 0

Molecular Karyotyping [#3698]

16 Jun 2013
Array CGH, Dsymorphology, Neurogenetics, Reproductive Genetics
Comments: 0

Mitomycin C Test [#5160]

16 Jun 2013
Cytogenetics, Dsymorphology
Comments: 0

Marker Chromose Identification [#5806]

16 Jun 2013
Dsymorphology, FISH
Comments: 0

MARFAN Syndrome (FBN1 Gene DNA Sequence Analysis) [#2405]

16 Jun 2013
DNA Sequencing, Dsymorphology
Comments: 0

Congenital Nephrotic Syndrome, Type 1 (NPHS1 Gene) [#3613]

16 Jun 2013
DNA Sequencing, Dsymorphology
Comments: 0

KIF2A Gene DNA Sequence Analysis [#3492]

15 Jun 2013
DNA Sequencing, Dsymorphology, Neurogenetics
Comments: 0

Kartagener Syndrome Primary Ciliary Dyskinesia [CILD1 (DNAI1) Gene DNA Sequence Analysis] [#4008]

15 Jun 2013
DNA Sequencing, Dsymorphology, Multisystem Diseases
Comments: 0

HOXA1 Gene Sequence Analysis [#3496]

15 Jun 2013
DNA Sequencing, Dsymorphology, Neurogenetics, Ophthalmogenetics
Comments: 0

HRAS Mutations [#3625]

15 Jun 2013
DNA Sequencing, Dsymorphology, Oncogenetics
Comments: 0

Hypochondroplasia Mutation Analysis [#3109]

15 Jun 2013
Dsymorphology, PCR-RFLP
Comments: 0

FOXL2 Mutation [#2167]

15 Jun 2013
DNA Sequencing, Dsymorphology
Comments: 0

FGFR3 Sequence Analysis [#3116]

15 Jun 2013
DNA Sequencing, Dsymorphology
Comments: 0

FGF23 Mutations [#2142]

15 Jun 2013
DNA Sequencing, Dsymorphology
Comments: 0

ECTODERMAL DYSPLASIA, HYPOHIDROTIC (EDAR Gene Sequence Analysis) [#3636]

15 Jun 2013
DNA Sequencing, Dsymorphology
Comments: 0

DIGEORGE SYNDROME (FISH) [#5788]

15 Jun 2013
Dsymorphology, FISH
Comments: 0

DEB Test [#5815]

15 Jun 2013
Cytogenetics, Dsymorphology, Hematogenetics
Comments: 0

CRI-DU-CHAT SYNDROME (FISH) [#5797]

15 Jun 2013
Dsymorphology, FISH
Comments: 0

CONNEXIN26 Mutations [#3181]

15 Jun 2013
DNA Sequencing, Dsymorphology
Comments: 0

Chromosome Analysis from Skin Biopsy [#3206]

15 Jun 2013
Cytogenetics, Dsymorphology, Tissue Culture
Comments: 0

CHN1 Gene Sequence Analysis [#3495]

15 Jun 2013
DNA Sequencing, Dsymorphology, Neurogenetics, Ophthalmogenetics
Comments: 0

Cadasil Disease (Exon 3, 4, 5, 6) [#3607]

15 Jun 2013
DNA Sequencing, Dsymorphology, Neurogenetics
Comments: 0

Brugada Syndrome [#4322]

15 Jun 2013
DNA Sequencing, Dsymorphology
Comments: 0

BMP4 Gene Sequence Analysis [#3192]

15 Jun 2013
DNA Sequencing, Dsymorphology
Comments: 0

BECKWITH WIEDEMANN 11p15 Hypomethylation Analysis [#3628]

15 Jun 2013
Dsymorphology, Methylation Analysis
Comments: 0

ADRENOLEUKODYSTROPHY (ABCD1 Gene) [#3183]

15 Jun 2013
DNA Sequencing, Dsymorphology
Comments: 0

Achondroplasia Mutation Analysis (FGFR3 Gene) [#3101]

15 Jun 2013
Dsymorphology, PCR-RFLP
Comments: 0

AARSKOG (FGD1 Gene) [#3631]

15 Jun 2013
DNA Sequencing, Dsymorphology
Comments: 0