FMTT - Overview: Familial Mutation, Targeted Testing

Test Catalog

Test Name

Test ID: FMTT    
Familial Mutation, Targeted Testing

Useful For Suggests clinical disorders or settings where the test may be helpful

Diagnostic or predictive testing for specific conditions when 1 or more mutations have been identified in a family member

                   

Carrier screening for individuals at risk for having a mutation that was previously identified in a family member

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

Documentation of the specific familial mutations is required and must be provided with the specimen in order to perform this test. Consultation with the laboratory is required prior to ordering this test.

 

Note: analysis of the area surrounding the familial variant may be required in the performance of this assay, which could result in identification of additional variants. Contact the laboratory at 800-533-1710 with any questions regarding assay performance.

Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)

Test IDReporting NameAvailable SeparatelyAlways Performed
MATCCMaternal Cell Contamination, BYesNo
CULFBFibroblast Culture for Genetic TestYesNo
CULAFAmniotic Fluid Culture/Genetic TestYesNo
_G001Gene GRHPRNo, (Bill Only)No
_G002Gene PPOXNo, (Bill Only)No
_G003Gene CFTR_SEQNo, (Bill Only)No
_G004Gene CFTR_MLPANo, (Bill Only)No
_G005Gene MLH1No, (Bill Only)No
_G006Gene MSH2No, (Bill Only)No
_G007Gene MSH6No, (Bill Only)No
_G008Gene MECP2_SEQNo, (Bill Only)No
_G009Gene MLH3No, (Bill Only)No
_G010Gene CHEK2No, (Bill Only)No
_G011Gene IDUANo, (Bill Only)No
_G012Gene AXIN2No, (Bill Only)No
_G013Gene BMPR1ANo, (Bill Only)No
_G014Gene PTENNo, (Bill Only)No
_G015Gene SMAD4No, (Bill Only)No
_G016Gene STK11No, (Bill Only)No
_G017Gene TP53No, (Bill Only)No
_G018Gene IDSNo, (Bill Only)No
_G019Gene FLCNNo, (Bill Only)No
_G020Gene SPINK1No, (Bill Only)No
_G021Gene PRSS1No, (Bill Only)No
_G022Gene CTRCNo, (Bill Only)No
_G023Gene MEFVNo, (Bill Only)No
_G024Gene TNFRSF1ANo, (Bill Only)No
_G025Gene ABCD1No, (Bill Only)No
_G026Gene CDH1No, (Bill Only)No
_G027Gene NAGLUNo, (Bill Only)No
_G028Gene SGSHNo, (Bill Only)No
_G029Gene ARSBNo, (Bill Only)No
_G030Gene GNPTABNo, (Bill Only)No
_G031Gene SEPT9No, (Bill Only)No
_G032Gene ACADVLNo, (Bill Only)No
_G033Gene ACADMNo, (Bill Only)No
_G034Gene ACADSNo, (Bill Only)No
_G035Gene FECHNo, (Bill Only)No
_G036Gene MAPTNo, (Bill Only)No
_G037Gene PKHD1No, (Bill Only)No
_G038Gene GRNNo, (Bill Only)No
_G039Gene FTCDNo, (Bill Only)No
_G040Gene CDKN1CNo, (Bill Only)No
_G041Gene CPOXNo, (Bill Only)No
_G042Gene ATP7BNo, (Bill Only)No
_G043Gene GAANo, (Bill Only)No
_G044Gene HMBSNo, (Bill Only)No
_G045Gene GALTNo, (Bill Only)No
_G046Gene GLANo, (Bill Only)No
_G047Gene BTDNo, (Bill Only)No
_G048Gene HEXANo, (Bill Only)No
_G049Gene AGXTNo, (Bill Only)No
_G050Gene APCNo, (Bill Only)No
_G051Gene MLYCDNo, (Bill Only)No
_G052Gene MMACHCNo, (Bill Only)No
_G053Gene GBANo, (Bill Only)No
_G054Gene SMPD1No, (Bill Only)No
_G055Gene CPT2No, (Bill Only)No
_G056Gene TTRNo, (Bill Only)No
_G057Gene UBE3ANo, (Bill Only)No
_G058Gene GALCNo, (Bill Only)No
_G059Gene GSNNo, (Bill Only)No
_G060Gene LYZNo, (Bill Only)No
_G061Gene FGANo, (Bill Only)No
_G062Gene APOA1No, (Bill Only)No
_G063Gene APOA2No, (Bill Only)No
_G064Gene MMADHCNo, (Bill Only)No
_G065Gene SLC25A20No, (Bill Only)No
_G066Gene ARSANo, (Bill Only)No
_G067Gene NPC1/2_SEQ and NPC1/2_MLPANo, (Bill Only)No
_G068Gene PMS2_LR and PMS2_SEQNo, (Bill Only)No
_G069Gene PMS2_MLPANo, (Bill Only)No
_G070Gene RAI1No, (Bill Only)No
_G071Gene MUTYHNo, (Bill Only)No
_G072Gene HGSNATNo, (Bill Only)No
_G073Gene GNS and GRHPR_MLPANo, (Bill Only)No
_G074Gene PSAPNo, (Bill Only)No
_G075Single-gene Large Del/DupNo, (Bill Only)No
_G076Gene MECP2_MLPANo, (Bill Only)No
_G077Gene RETNo, (Bill Only)No
_G078Gene SUMF1No, (Bill Only)No
_G079Gene CASR_SeqNo, (Bill Only)No
_G080Gene VHL_SEQNo, (Bill Only)No
_G081VHL_MLPANo, (Bill Only)No
_G082Gene SHDP_MLPANo, (Bill Only)No
_G083Gene SDHB, SDHC, and SDHD_MLPANo, (Bill Only)No
_G084Gene SDHB, SDHC, SDHD_SeqNo, (Bill Only)No
_G085Gene BRCA1No, (Bill Only)No
_G086Gene BRCA2No, (Bill Only)No

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture will be added and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.

 

Any FMTT orders for a variant that was detected by whole exome sequencing (WES) or next-generation sequencing (NGS) large panel assays require a proband sample that has been previously run on these assays at Mayo Medical Laboratories. Contact the laboratory to determine whether adequate DNA is available in the laboratory or if a new proband sample is required.

 

Any FMTT orders for a BRCA1 or BRCA2 variant detected at an outside institution require a proband sample to be run concurrently with the order at no charge. Contact the laboratory with any questions regarding this request.

 

See Full Gene Analysis/Multi-Gene Panels versus Familial Mutation Targeted Testing in Special Instructions.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

Polymerase Chain Reaction (PCR) followed by DNA Sequencing Analysis, Gene Dosage Analysis by Array Comparative Genomic Hybridization (aCGH), and/or Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.

Conditional

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Familial Mutation, Targeted Testing

Aliases Lists additional common names for a test, as an aid in searching

Adrenomyeloneuropathy
ACADM
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
ACADS
Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency
ACADVL
Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
AGXT
Primary Hyperoxaluria Type 1 (PH1)
APC
Familial Adenomatous Polyposis (FAP)
Gardner's Syndrome
APOA1
Apolipoprotein A-I
APOA2
Apolipoprotein A-II
ARSA
Metachromatic Leukodystrophy (MLD)
Arylsulfatase A Deficiency
ARSB
Maroteaux-Lamy Syndrome
Mucopolysaccharidosis VI (MPS6)
ATP7B
Wilson Disease
AXIN2
Oligo dontia-colorectal cancer syndrome
BMPR1A
Juvenile polyposis syndrome (JPS)
BTD
Biotinidase Deficiency
CDH1
Hereditary Diffuse Gastric Cancer
CDKN1C
Beckwith-Wiedemann syndrome (BWS)
IMAGe syndrome
CFTR
Cystic Fibrosis (CF)
CHEK2
Li-Fraumeni-Like Syndrome
CPOX
Hereditary Coproporphyria (HCP)
Acute Intermittent Porphyria (AIP)
CPT2
Carnitine Palmitoyltransferase II Deficiency
CTRC
Hereditary Pancreatitis
FECH
Erythropoietic Protoporphyria (EPP)
Ferrochelatase Deficiency
FGA
Familial visceral amyloidosis
FLCN
Birt-Hogg-Dube Syndrome
FTCD
Glutamate Formiminotrasferase Deficiency (FIGLU)
GAA
Glycogen Storage Disease Type II (GSD II)
Pompe Disease
GALC
Krabbe Disease
GALT
Galactosemia
GBA
Gaucher Disease
GLA
Fabry Disease
GNPTAB
Mucolipidosis II Alpha/Beta
Mucolipidosis III Alpha/Beta
GNS
Sanfilippo Syndrome Type D
Mucopolysaccharidosis IIID (MPS3D)
GRHPR
Primary Hyperoxaluria Type 2 (PH2)
GRN
Progranulin
Frontotemporal Dementia (FTD)
GSN
Amyloidosis V
HEXA
Tay-Sachs disease (TSD)
HMBS
IDS
Mucopolysaccharidosis type II (MPS2)
Hunter Syndrome
IDUA
Mucopolysaccaridosis Type I (MPS1)
Hurler Syndrome
LYZ
MAPT
MECP2
Rett Syndrome
MEFV
Familial Mediterranean Fever
MLH1
Lynch Syndrome
Hereditary Non-Polyposis Colorectal Cancer (HNPCC)
MLH3
Hereditary colorectal cancer
MLYCD
Malonyl-CoA Decarboxylase (MCD) Deficiency
MMACHC
Methylmalonic Aciduria (MMA)
Homocystinuria
cblC
MMADHC
cblD
MSH2
MSH6
NAGLU
Sanfilippo Syndrome Type B
Mucopolysaccharidosis IIIB (MPS3B)
NPC1
Niemann-Pick Type C (NPC)
NPC2
Niemann-Pick Disease (NPD)
PKHD1
Autosomal Recessive Polycystic Kidney Disease (ARPKD)
PMS2
PPOX
Variegate porphyria (VP)
PRSS1
PTEN
Bannayan-Riley-Ruvalcaba Syndrome
Cowden Syndrome
Lhermitte-Duclos Disease
Proteus Syndrome
Proteus-like syndrome
PTEN hamartoma tumor syndrome (PHTS)
RAI1
Smith-Magenis Syndrome
RET
Multiple Endocrine Neoplasia Type 2 (MEN2)
SCG5
GREM1
Hereditary mixed polyposis syndrome
SEPT9
Familial Brachial Plexus Neuritis
Hereditary Neuralgic Amyotrophy
SGSH
Sanfilippo Syndrome Type A
Mucopolysaccharidosis IIIB (MPS3A)
SLC25A20
Carnitine-Acylcarnitine Translocase (CACT) Deficiency
SMAD4
Myhre syndrome
Hereditary hemorrhagic telangiectasia (HHT)
SMPD1
Niemann Pick Disease Type A
Niemann Pick Disease Type B
SPINK1
STK11
Peutz-Jeghers syndrome (PJS)
SUMF1
Multiple Sulfatase Deficiency (MSD)
TACSTD1/EPCAM
TNFRSF1A
Familial Periodic Fever
TP53
Li-Fraumeni syndrome
TTR
Familial Amyloidosis
UBE3A
Angelman Syndrome
Peroxisome
Peroxisomal
ABCD1
MUTYH
MYH
VHL
SDHB
SDHC
SDHD
CASR
BRCA1
BRCA2
Breast Cancer
Charcot-Marie Tooth
CMT
Dejerine-Sottas disease
dHMN
Distal hereditary motor neuropathy
Familial neuropathy
Hereditary breast and ovarian cancer
Hereditary sensory neuropathy
Hereditary spastic paraplegia
HNPP
HSN
HSP
Inherited neurorpathy
Peripheral neuropathy
BRCA