Test ID: FMTT    
Familial Mutation, Targeted Testing, Varies

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

 

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

Documentation of the specific familial variants 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.

 

The preferred specimen for this test is whole blood. Other specimens may be acceptable for certain genes as follows.

 

The following genes are available for testing on the blood spot specimen type:

ABCD1, ACADM, ACADS, ACADVL, ARSA, ARSB, CFTR*, CPT2, CPOX, FECH, FTCD, GAA, GALT, GALC, GBA, GLA, GNS, HMBS, IDS, IDUA, MMACHC, MMADHC, NAGLU, PPOX, SGSH, SLC25A20, SMN1, SMPD1, and SUMF1

*Note: CFTR deletion/duplication analysis is not offered on dried blood spot specimens.

 

The following genes are available for testing on fibroblasts and skin biopsy specimen types:

ABCD1, ACADM, ACADS, ACADVL, APOA1, APOA2, ARSA, ARSB, ATP7B, BTD, CDKN1C, CPOX, CPT2, CTRC, FECH, FGA, FTCD, GAA, GALC, GALT, GBA, GLA, GNPTAB, GNS, GRN, GSN, HEXA, HMBS, IDS, IDUA, LYZ, MAPT, MMACHC, MMADHC, NAGLU, PKHD1, PPOX, PRSS1, RET, SCG5, SGSH, SLC25A20, SMN1, SMPD1, SPINK1, SUMF1, TTR, and UBE3A

 

Due to the complexity of prenatal testing, consultation with the laboratory is required for all prenatal testing.

 

The following genes are available for testing on prenatal specimen types:

ABCD1, AGXT, ARSA, ARSB, BTD, CDKN1C, CFTR, CPT2, GLA, GALC, GALT, GBA, GNPTAB, GNS, GRHPR, HEXA, IDS, IDUA, MLYCD, MMACHC, MMADHC, NAGLU, NPC1, NPC2, PKHD1, SGSH, SLC25A20, SMN1, SMPD1, SUMF1, and UBE3A. Contact the laboratory to inquire about genes not included on this list.

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.

 

Testing for variants detected by whole exome sequencing (WES) or large panels: Any familial mutation targeted testing (FMTT) orders for a variant that was detected by WES or next-generation sequencing (NGS) large panel assays requires a proband sample that has been previously tested at Mayo Clinic Laboratories. Contact the laboratory to determine whether adequate DNA is available in the laboratory or if a new proband sample is required.

 

The following algorithms are available in Special Instructions:

-Fabry Disease Diagnostic Testing Algorithm

-Fabry Disease: Newborn Screen-Positive Follow-up

-Full Gene Analysis/Multi-Gene Panels versus Familial Mutation Targeted Testing

-Lynch Syndrome Testing Algorithm

-Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm

Yes

Familial Mutation, Targeted Testing

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
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
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
MPZ
BMD
DMD
Dystrophinopathy
Duchenne Muscular Dystrophy
Becker Muscular Dystrophy
Alpha-1 Antitrypsin Deficiency
MAX
Paraganglioma
Pheochromocytoma
SDHAF2
SERPINA1
SMA
SMN1
Spinal Muscular Atrophy
TMEM127
G6PD
GJB2
HBA1/HBA2
HBB
PMP22