MOLECULAR GENETIC TESTING FOR INHERITED DISORDERS · Biotinidase Deficiency, BTD Full Gene...

MOLECULAR GENETICSMOLECULAR GENETIC TESTING FOR INHERITED DISORDERS

L A B O R A T O R Y G E N E T I C S A T M A Y O C L I N I C

M A Y O M E D I C A L L A B O R A T O R I E S . C O M

ALPHA THALASSEMIA

Alpha-Globin Gene Analysis

AMBIGUOUS GENITALIA

21-Hydroxylase Gene (CYP21A2), Full Gene Analysis*

AMYLOIDOSIS, FAMILIAL

Amyloidosis, Transthyretin-Associated Familial, DNA Sequence*

Apolipoprotein A-I (APOA1) Gene, Full Gene Analysis*

Apolipoprotein A-II (APOA2) Gene, Full Gene Analysis*

Fibrinogen Alpha-Chain (FGA) Gene, Full Gene Analysis*

Gelsolin (GSN) Gene, Full Gene Analysis*

Lysozyme (LYZ) Gene, Full Gene Analysis*

ANGELMAN SYNDROME

UBE3A Gene, Full Gene Analysis*

Prader-Willi/Angelman Syndrome, Molecular Analysis

AUTOSOMAL DOMINANT ECTOPIA LENTIS

FBN1, Full Gene Sequence*

AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA

Familial Hypercholesterolemia, LDLR Full Gene Sequencing*

Familial Hypercholesterolemia/Autosomal Dominant

Hypercholesterolemia Genetic Testing Reflex Panel

AUTOSOMAL DOMINANT HYPOCALCEMIA

Calcium Sensing Receptor (CASR) Gene, Mutation Screen*

AUTOSOMAL DOMINANT WEILL-MARCHESANI SYNDROME


AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Autosomal Recessive Polycystic Kidney Disease (ARPKD), Full

Gene Analysis*

BECKWITH-WIEDEMANN SYNDROME (BWS)

Beckwith-Wiedemann syndrome (BWS)/Russell-Silver syndrome

(RSS) Molecular Analysis*

BIOTINIDASE DEFICIENCY

Biotinidase Deficiency, BTD Full Gene Analysis*

BLOOM SYNDROME

Ashkenazi Jewish Mutation Analysis Panel

Bloom Syndrome, Mutation Analysis, 2281del6/ins7

BIRT-HOGG-DUBÉ

Birt-Hogg-Dube Syndrome, Full Gene Analysis*

CANAVAN DISEASE


Canavan Disease, Mutation Analysis, ASPA

CARDIOFACIOCUTANEOUS SYNDROME

PTPN11, Full Gene Sequence, Blood*

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY (CPT II)

Carnitine Palmitoyltransferase II Deficiency, Full Gene Analysis*

CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (CACT)

Carnitine-Acylcarnitine Translocase Deficiency, Full Gene Analysis*

COMMON VARIABLE IMMUNODEFICIENCY

Transmembrane Activator and CAML Interactor (TACI) Gene, Full

Gene Analysis*

CONGENITAL ADRENAL HYPERPLASIA (CAH)

21-Hydroxylase Gene (CYP21A2), Full Gene Analysis*

CRIGLER-NAJJAR SYNDROME

UDP-Glucuronosyl Transferase 1A1 (UGT1A1), Full Gene

Sequencing, Hyperbilirubinemia*

CYSTIC FIBROSIS

CFTR Gene, Full Gene Analysis*

Cystic Fibrosis Mutation Analysis, 106-Mutation Panel

DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY

Dentatorubral-Pallidoluysian Atrophy (DRPLA) Gene Analysis

DUCHENNE/BECKER MUSCULAR DYSTROPHY

Duchenne/Becker Muscular Dystrophy DMD Gene, Large Deletions

and Duplication Analysis

ERYTHROPOIETIC PROTOPORPHYRIA (EEP)

Ferrochelatase (FECH) Gene, Full Gene Analysis*

FABRY DISEASE

Fabry Disease, Full Gene Analysis*

FAMILIAL ADENOMATOUS POLYPOSIS (FAP)

APC Gene, Full Gene Analysis*

FAMILIAL DEFECTIVE APOLIPOPROTEIN B-100

Apolipoprotein B-100 Molecular Analysis, R3500Q and R3500W



FAMILIAL DYSAUTONOMIA


Familial Dysautonomia, Mutation Analysis, IVS20(+6T->C) and

R696P

FAMILIAL HYPERCHOLESTEROLEMIA

Familial Hypercholesterolemia, LDLR Full Gene Sequencing*



FAMILIAL HYPOCALCIURIC HYPERCALCEMIA


FAMILIAL THORACIC AORTIC ANEURYSM AND DISSECTION


TGFBR1, Full Gene Sequence*


FANCONIA ANEMIA TYPE C


Fanconi Anemia C Mutation Analysis, IVS4(+4)A->T and 322delG

FORMIMINOTRANSFERASE DEFICIENCY (FIGLU)

FTCD Gene, Full Gene Analysis*

FRAGILE X SYNDROME

Fragile X Syndrome, Molecular Analysis

FRONTOTEMPORAL DEMENTIA

C9orf72, Molecular Analysis

MAPT Gene, Sequence Analysis, 7 Exon Screening Panel*

Progranulin Gene (GRN), Full Gene Analysis*

GALACTOSEMIA

Galactosemia Gene Analysis (6-Mutation Panel)

GALT Gene, Full Gene Analysis*

GAUCHER DISEASE


Gaucher Disease, Mutation Analysis, GBA

Gaucher Disease, Full Gene Analysis*

8 0 0 - 5 3 3 - 1 7 1 0 o r + 5 0 7 - 2 6 6 - 5 7 0 0

M O L E C U L A R G E N E T I C S

GILBERT SYNDROME

UDP-Glucuronosyl Transferase 1A1 (UGT1A1), Full Gene

Sequencing, Hyperbilirubinemia*

HEMOCHROMATOSIS

Hemochromatosis HFE Gene Analysis, Blood

HEMOPHILIA A

Hemophilia A, Molecular Analysis for Inversion, Diagnosis and

Carrier Detection

HEMOPHILIA B

Hemophilia B, Factor IX Gene Mutation Screening*

HEREDITARY COLON CANCER

Hereditary Colon Cancer Multi-Gene Panel

MLH1 Mutation Screen*

MSH2 Mutation Screen*


PMS2 Gene, Full Gene Analysis*

Familial Adenomatous Polyposis (FAP) Mutation Screen*

MLH3 Gene, Full Gene Analysis*

MYH Gene Analysis for Multiple Adenoma, Y165C and G382D

SCG5/GREM1, Large Deletion/Duplication

STK11 Gene, Full Gene Analysis*

SMAD4 Gene, Full Gene Analysis*

BMPR1A Gene, Full Gene Analysis*

PTEN Gene, Full Gene Analysis*

CDH1 Gene, Full Gene Analysis*

AXIN2 Gene, Full Gene Analysis*

HEREDITARY DIFFUSE GASTRIC CANCER

CDH1 Gene, Full Gene Analysis*

HEREDITARY HEMORRHAGIC TELANGIECTASIA

Hereditary Hemorrhagic Telangiectasia, ENG and ACVRL1 Full

Gene Analysis*

HEREDITARY PANCREATITIS

Hereditary Pancreatitis Panel

PRSS1 Gene, Full Gene Analysis*

CFTR Gene, Full Gene Analysis*

SPINK1 Gene, Full Gene Analysis*

CTRC Gene, Full Gene Analysis*

Hereditary Pancreatitis, Mutation Screen*

HEREDITARY PARAGANGLIOMA-PHEOCHROMOCYTOMA SYNDROME

Succinate Dehydrogenase (SDH) Gene Analysis*

Succinate Dehydrogenase (SDH) Subunit B Gene Analysis

Succinate Dehydrogenase (SDH) Subunit C Gene Analysis

Succinate Dehydrogenase (SDH) Subunit D Gene Analysis

HEREDITARY PROSTATE CANCER

HOXB13 Mutation Analysis (G84E)

HUNTER SYNDROME

Hunter Syndrome, Full Gene Analysis*

HURLER SYNDROME

Hurler Syndrome, Full Gene Analysis*

HYPEROXALURIA TYPE 1 AND TYPE 2

AGXT Gene, Full Gene Analysis*

Alanine: Glyoxylate Aminotransferase (AGXT) Mutation Analysis

(G170R), Blood

GRHPR, Full Gene Analysis*

ISOVALERIC ACIDEMIA / ISOVALERYL-COA DEHYDROGENASE DEFICIENCY

Isovaleryl-CoA Dehydrogenase (IVD) Mutation Analysis (A282V)

ICHTHYOSIS VULGARIS

FLG Gene, Mutation Analysis

JUVENILE POLYPOSIS SYNDROME

SMAD4 Gene, Full Gene Analysis*

BMPR1A Gene, Full Gene Analysis*

KRABBE DISEASE

Krabbe Disease, Full Gene Analysis*

LEOPARD SYNDROME

PTPN11, Full Gene Sequence, Blood*

LI-FRAUMENI SYNDROME

CHEK2 Gene, Full Gene Analysis*

TP53 Gene, Full Gene Analysis*

LOEYS-DIETZ SYNDROME



LYNCH SYNDROME / HNPCC

MMR Protein, IHC Only, Tumor

BRAF Mutation Analysis (V600E), Tumor

Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Screen

Microsatellite Instability (MSI), Tumor

MLH1 Hypermethylation Analysis, Tumor

MLH1 Hypermethylation Analysis, Blood

MLH1 Hypermethylation and BRAF Mutation Analysis, Tumor

MLH1 Mutation Screen*

MLH1/MSH2 Mutation Screen



PMS2 Gene, Full Gene Analysis*

MALE INFERTILITY

Cystic Fibrosis Mutation Analysis, 106-Mutation Panel

Y Chromosome Microdeletions, Molecular Detection

MALONIC ACIDURIA / MALONYL-COENZYME A DECARBOXYLASE

DEFICIENCY

MLYCD Gene, Full Gene Analysis*

MARFAN SYNDROME


FBN1, Partial Gene Sequence, Neonatal Marfan Syndrome

MATERNAL CELL CONTAMINATION ASSOCIATED WITH PRENATAL TESTING

Maternal Cell Contamination, Molecular Analysis

MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (MCAD)

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency

Mutation Screen*

METACHROMATIC LEUKODYSTROPHY (MLD)

ARSA Gene, Full Gene Analysis*

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA

Methylmalonic Aciduria and Homocystinuria, cblC Type, Full Gene

Analysis*

Methylmalonic Aciduria and Homocystinuria, cblD Type, Full Gene

Analysis*

MUCOLIPIDOSIS TYPE II AND III

GNPTAB Gene, Full Gene Analysis*

MC2775-39rev0216

@mayocliniclabs/mayocliniclabsnews.mayomedicallaboratories.commayomedicallaboratories.com

MUCOLIPIDOSIS TYPE IV


Mucolipidosis IV, Mutation Analysis, IVS3(-2)A->G and del6.4kb

MUCOPOLYSACCHARIDOSIS

Mucopolysaccharidosis IIIA, Full Gene Analysis*

Mucopolysaccharidosis IIIB, Full Gene Analysis*

Mucopolysaccharidosis IIID, Full Gene Analysis*

Mucopolysaccharidosis VI, Full Gene Analysis*

MULTIPLE ENDOCRINE NEOPLASIA TYPE 2 (MEN2) / FAMILIAL MEDULLARY

RET Proto-Oncogene, Full Gene Analysis*

THYROID CANCER (FMTC)

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

MULTIPLE SULFATASE DEFICIENCY

Multiple Sulfatase Deficiency, Full Gene Analysis*

MYH-ASSOCIATED POLYPOSIS (MAP) SYNDROME

MYH Gene Analysis for Multiple Adenoma, Y165C and G382D

NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM


NIEMANN-PICK DISEASE TYPE A AND TYPE B


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

Niemann-Pick Disease, Types A and B, Full Gene Analysis*

NIEMANN-PICK DISEASE TYPE C

Niemann-Pick Type C, Full Gene Analysis*

NOONAN SYNDROME

Noonan Spectrum Sequence Panel

KRAS, Full Gene Sequence*

PTPN11, Full Gene Sequence*

RAF1, Full Gene Sequence*

SOS1, Full Gene Sequence*

OLIGODONTIA-COLORECTAL CANCER SYNDROME

AXIN2 Gene, Full Gene Analysis*

OSLER-WEBER-RENDU SYNDROME

Hereditary Hemorrhagic Telangiectasia, ENG and ACVRL1 Full Gene

Analysis*

PERIODIC FEVER SYNDROMES

MEFV Gene, Full Gene Analysis*

TNFRSF1A Gene, Full Gene Analysis*

PEUTZ-JEGHERS SYNDROME

STK11 Gene, Full Gene Analysis*

PHEOCHROMOCYTOMA

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

Succinate Dehydrogenase (SDH) Gene Analysis*

Succinate Dehydrogenase (SDH) Subunit B Gene Analysis

Succinate Dehydrogenase (SDH) Subunit C Gene Analysis

Succinate Dehydrogenase (SDH) Subunit D Gene Analysis

Von Hippel-Lindau (VHL) Gene, Full Gene Analysis*

POMPE DISEASE

Pompe Disease, Full Gene Sequencing*

PORPHYRIA

Acute Porphyria, Multi-Gene Panel

CPOX Gene, Full Gene Analysis*

HMBS Gene, Full Gene Analysis*

PPOX Gene, Full Gene Analysis*

PRADER WILLI SYNDROME

Prader-Willi/Angelman Syndrome, Molecular Analysis

PTEN HARMARTOMA TUMOR SYNDROME

PTEN Gene, Full Gene Analysis*

RETT SYNDROME

MECP2 Gene, Full Gene Analysis*

RUSSELL-SILVER SYNDROME (RSS)

Beckwith-Wiedemann syndrome (BWS)/Russell-Silver syndrome

(RSS) Molecular Analysis

SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (SCAD)

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

Screen*

SHPRINTZEN-GOLDBERG SYNDROME


SPINOBULBAR MUSCULAR ATROPHY / KENNEDY’S DISEASE

Spinobulbar Muscular Atrophy (Kennedy’s Disease), Molecular

Analysis

TAY-SACHS DISEASE


Tay-Sachs Disease, Mutation Analysis, HEXA

Tay-Sachs Disease, HEXA Gene, Full Gene Analysis*

TYPE III HYPERLIPOPROTIEINEMIA

Apolipoprotein E Genotyping, Blood

UNIPARENTAL DISOMY

Uniparental Disomy

VERY LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (VLCAD)

Very Long Chain Acyl-CoA Dehydrogenase Deficiency, Full Gene

Analysis*

VON HIPPEL-LINDAU DISEASE

Von Hippel-Lindau (VHL) Gene, Full Gene Analysis*

WILSON DISEASE

Wilson Disease Mutation Screen, ATP7B DNA Sequencing*

X-LINKED ADRENOLEUKODYSTROPHY

X-Linked Adrenoleukodystrophy, Full Gene Analysis *

X-LINKED AGAMMAGLOBULINEMIA

Bruton Tyrosine Kinase (BTK) Genotype and Protein Analysis, Full

Gene Sequence and Flow

Bruton Tyrosine Kinase (BTK) Genotype, Full Gene Sequence*

* Known Mutation Testing Available

MOLECULAR GENETIC TESTING FOR INHERITED DISORDERS · Biotinidase Deficiency, BTD Full Gene...

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Transcript of MOLECULAR GENETIC TESTING FOR INHERITED DISORDERS · Biotinidase Deficiency, BTD Full Gene...