Web:	MayoMedicalLaboratories.com
Email:	mml@mayo.edu
Telephone:	800.533.1710
International:	507.266.5700
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Molecular Genetics Laboratory

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The Molecular Genetics Laboratory provides expertise in DNA/molecular genetic testing for both congenital and inherited cancer syndromes. Our board certified laboratory directors are leaders in the field of genetic testing who continually strive to develop new test methods that improve patient care. In collaboration with laboratory technologists, supervisors and genetic counselors, they work to improve assays by increasing mutation detection rates and decreasing turn around time.

A

Age-Related Macular Degeneration (AMD), Risk Analysis

Patient Information Form (required)

Alanine:glyoxylate aminotransferase-(AGXT) Mutation Analysis

Patient Information Form (required)

Alpha-1-Antitrypsin Genotype Profile

Patient Information Form (required)

Alpha-Globin Gene Analysis-(Alpha-Thalassemia)

Patient Information Form (required)

Amyloidosis, Transthyretin-Associated Familial-DNA Sequence

Patient Information Form (required)

Amyloidosis, Transthyretin-Associated Familial Known Mutation

Patient Information Form (required)

APC Gene Testing

Refer to FAP Mutation Screen or FAP Known Mutation

Apolipoprotein E (APOE) Genotyping

Patient Information Form (required)

Ashkenazi Jewish Mutation Analysis Panel

Patient Information Form (required)

Ashkenazi Jewish Mutation Analysis Panel Without Cystic Fibrosis

Patient Information Form (required)

Autosomal Recessive Polycystic Kidney Disease (ARPKD), Full Gene Analysis

Patient Information Form (required)

Autosomal Recessive Polycystic Kidney Disease (ARPKD), Known Mutation

Patient Information Form (required)

B

Beckwith-Wiedemann Syndrome (BWS) Methylation Analysis

Patient Information Form (required)

Biotinidase Deficiency (BTD Gene), Full Gene Analysis

Patient Information Form (required)

Biotinidase Deficiency (BTD Gene), Known Mutation

Patient Information Form (required)

Bloom Syndrome Mutation Analysis

Patient Information Form (required)

BRAF Mutation Analysis (V600E), Tumor

Patient Information Form (required)
Refer to the MLH1-Hypermethylation/BRAF Mutation Analyses for additional tumor screening options.
Refer to the HNPCC (Hereditary Nonpolyposis Colorectal Cancer)-Screen for MSI and IHC analyses.

C

Canavan Disease Mutation

Patient Information Form (required)

Cystic Fibrosis (CFTR) Molecular Analysis

D

Dentatorubral-Pallidoluysian Atrophy (DRPLA) Gene Analysis

Patient Information Form (required)

F

Fabry Disease, Full Gene Analysis

Patient Information Form (required)

Fabry Disease, Known Mutation

Patient Information Form (required)

Familial Adenomatous Polyposis (FAP) Known Mutation

Familial Adenomatous Polyposis (FAP) Mutation Screen

Patient Information Form (required)

Familial Dysautonomia Mutation Analysis

Patient Information Form (required)

Fanconi Anemia, Type C, Mutation Analysis

Patient Information Form (required)

Fragile X Syndrome, Molecular Analysis

Patient Information Form (required)

Frontotemporal Dementia with Parkinsonism-17

Refer to MAPT for test options

G

Galactosemia (GALT) Gene Analysis

Galactosemia Confirmation Test, Blood

Galactosemia Gene Analysis (6 mutation panel)

Galactosemia Gene, Full Gene Analysis

Galactosemia Gene Analysis, Known Mutation
- Patient Information Form (required for each test)

Gaucher Disease, Molecular Analysis (Carrier Detection)

Patient Information Form (required)

H

Hemochromatosis (HFE) Gene Analysis

Patient Information Form (required)

Hemophilia A, Molecular Analysis for Inversion, Diagnosis and Carrier Detection

Patient Information Form (required)

HNPCC (Hereditary Nonpolyposis Colorectal Cancer) - Screen
(Tumor Testing for MSI and IHC)

Patient Information Form (required)
Communiqué Article
Refer to Microsatellite Instability Only, Tumor-(MSI Only) for stand alone analysis.
Refer to MLH1 , MSH2 , or MSH6 for germline testing information.
Refer to the MLH1-Hypermethylation/BRAF Mutation Analyses for additional tumor screening options.

Hereditary Pancreatitis

Patient Information Form (required)

Hereditary Pancreatitis, Known Mutation

Patient Information Form (required)

Hyperoxyluria

Refer to: Alanine:glyoxylate aminotransferase (AGXT) Mutation Analysis

I

Immunohistochemistry

Refer to HNPCC Screen
Communiqué Article

IVD (Isovaleryl-CoA Dehydrogenase), Mutation Analysis

Patient Information Form (required)

M

Macular Degeneration

Refer to: Age-Related Macular Degeneration (AMD), Risk Analysis

MAPT Known Mutation

Patient Information Form (required)

MAPT Screening Sequence Analysis

Patient Information Form (required)

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Known Mutation

Patient Information Form (required)

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Molecular Profile

Patient Information Form (required)

Microsatellite Instability Only, Tumor-(MSI Only)

Patient Information Form (required)
Refer to HNPCC Screen for MSI/IHC testing
Communiqué Article

MLH1 Hypermethylation and BRAF Mutation Analyses, Tumor

Patient Information Form (required)
Refer to the MLH1-Hypermethylation Analysis or BRAF Mutation Analysis for stand alone analysis.
Refer to the HNPCC (Hereditary Nonpolyposis Colorectal Cancer)-Screen for MSI and IHC analyses.

MLH1 Hypermethylation Analysis, Tumor

Patient Information Form (required)
Refer to the MLH1-Hypermethylation/BRAF Mutation Analyses for additional tumor screening options.
Refer to the HNPCC (Hereditary Nonpolyposis Colorectal Cancer)-Screen for MSI and IHC analyses.

MLH1-Known Mutation

MLH1/MSH2 Mutation Screen

Patient Information Form (required)

MLH1-Mutation Screen

Patient Information Form (required)
Communiqué Article
Refer to HNPCC Screen for MSI/IHC testing

MSH2-Known Mutation

MSH2-Mutation Screen

Patient Information Form (required)
Communiqué Article
Refer to HNPCC Screen for MSI/IHC testing

MSH6-Known Mutation

MSH6-Mutation Screen

Patient Information Form (required)
Communiqué Article
Refer to HNPCC Screen for MSI/IHC testing

Mucolipidosis IV Mutation Analysis

Patient Information Form (required)

Multiple Endocrine Neoplasia Type 2-Mutation Screen (2A, 2B, FMTC)

Patient Information Form (required)

Multiple Endocrine Neoplasia Type 2-Known Mutation (2A, 2B, FMTC)

Patient Information Form (required)

MYH Gene Analysis for Multiple Adenoma

N

Niemann-Pick Disease, Types A and B, Mutation Analysis

Patient Information Form (required)

Niemann-Pick Type C Disease, Known Mutation

Patient Information Form (required)

Niemann-Pick Type C, Full Gene Analysis

Patient Information Form (required)

P

Prader-Willi/Angelman Syndrome, Molecular Analysis

Patient Information Form (required)

S

Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency Known Mutation

Patient Information Form (required)

Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency Mutation Screen

Patient Information Form (required)

Specimen Source Identification

Patient Information Form (required)

Spinobulbar Muscular Atrophy (Kennedy's Disease), Molecular Analysis

Patient Information Form (required)

T

Tay-Sachs Diagnosis and Carrier Detection

U

Uniparental Disomy-(UPD)

Parental specimens required. If specimens are not available, please contact the laboratory, 1-800-533-1710
Patient Information Form (required)

W

Wilson Disease Known Mutation

Wilson Disease Mutation Screen

Y

Y Chromosome Microdeletions, Molecular Detection

Patient Information Form (required)

Z

Zygosity Testing (Multiple Births)

Patient Information Form (required)