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Custom Gene Panel, Hereditary
MessageSendouts, Mayo test code: CGPH
Test Code
LAB1238244
Alias/See Also
CGPH
3-MCC deficiency
Acylglycerol disorders
Alexander disease (GFAP)
AMT
Biotin disorders
Biotinidase Deficiency (BTD)
Carnitine Palmitoyltransferase II Deficiency (CPT2)
Carnitine-Acylcarnitine Translocase Deficiency (SLC25A20)
CCM2
CDKL5
Cerebral Cavernous Malformation
COL4A1
Congenital Disorders of Glycosylation (CDG)
Copper disorders
Creatine Deficiency Disorder
CSTB
Custom Gene Ordering
Custom Gene Panel
Custom NGS Panel
Custom ordering
Custom Panels
Custom Sequencing Panels
Custom sequencing test
Customizable Hereditary Panels
Customizable Panels
Cystinuria
Fabry disease (GLA)
Familial adenomatous polyposi
FAP
Fructose disorders
GABA disorders
GAMT
Gastric cancer
GATM
Gaucher disease (GBA)
Glucose Transporter Deficiency
Glutaric aciduria
Glycogen Storage Disease (GSD)
HBOC
HDGC
Hereditary Breast and Ovarian Cancer syndrome
Hereditary Diffuse Gastric Cancer
Hereditary paraganglioma and pheochromocytoma
HNPCC
Hyperammonemia
Inborn errors of metabolism
Juvenile polyposis syndrome
Krabbe Disease (GALC)
KRIT1
LGI1
Li Fraumeni syndrome
Lung cancer
Lynch Syndrome
Lysosomal acid lipase deficiency (Wolman, LIPA)
Lysosomal Storage Disease (LSD)
MAP
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (ACADM)
Melanoma
MEN1
MEN2
Metabolic/biochemical disorders
Metachromatic leukodystrophy (ARSA)
Methionine disorder
Methylmalonic aciduria and homocystinuria
Mucopolysaccharidosis Type II (Hunter, IDS)
Mucopolysaccharidosis Type I (Hurler, IDUA)
Mucopolysaccharidosis
Multiple endocrine neoplasia syndrome type 1
Multiple endocrine neoplasia syndrome type 2
MUTYH Associated Polyposis
Neuronal Ceroid Lipofuscinosis (NCL, Batten Disease)
NextGen Sequencing Test
Niemann-Pick disease
Ornithine Transcarbamylase deficiency (OTC)
Ovarian cancer
Pancreatic cancer
Paraganglioma
PDCD10
Peutz Jeghers syndrome
PGL/PCC
Pheochromocytoma
Polyposis
Pompe disease (GAA)
porphyria
Propionic acidemia
Prostate cancer
PRRT2
PSAP
PTEN Hamartoma Tumor Syndrome
Purine/pyrimidine disorders
Sanfilippo syndrome (SGSH, NAGLU, HGSNAT, GNS)
Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency (ACADS)
Skin cancer
SLC2A1
SLC6A8
Tay-Sachs Disease (HEXA)
TCF4
Thiamine disorders
Thyroid cancer
Tuberous sclerosis
UBE3A
Uterine cancer
Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency (ACADVL)
Wilms tumor
Wolfram (WFS1, CISD2)
X-linked adrenoleukodystrophy (ABCD1)
ZEB2
Zellweger syndrome
3-MCC deficiency
Acylglycerol disorders
Alexander disease (GFAP)
AMT
Biotin disorders
Biotinidase Deficiency (BTD)
Carnitine Palmitoyltransferase II Deficiency (CPT2)
Carnitine-Acylcarnitine Translocase Deficiency (SLC25A20)
CCM2
CDKL5
Cerebral Cavernous Malformation
COL4A1
Congenital Disorders of Glycosylation (CDG)
Copper disorders
Creatine Deficiency Disorder
CSTB
Custom Gene Ordering
Custom Gene Panel
Custom NGS Panel
Custom ordering
Custom Panels
Custom Sequencing Panels
Custom sequencing test
Customizable Hereditary Panels
Customizable Panels
Cystinuria
Fabry disease (GLA)
Familial adenomatous polyposi
FAP
Fructose disorders
GABA disorders
GAMT
Gastric cancer
GATM
Gaucher disease (GBA)
Glucose Transporter Deficiency
Glutaric aciduria
Glycogen Storage Disease (GSD)
HBOC
HDGC
Hereditary Breast and Ovarian Cancer syndrome
Hereditary Diffuse Gastric Cancer
Hereditary paraganglioma and pheochromocytoma
HNPCC
Hyperammonemia
Inborn errors of metabolism
Juvenile polyposis syndrome
Krabbe Disease (GALC)
KRIT1
LGI1
Li Fraumeni syndrome
Lung cancer
Lynch Syndrome
Lysosomal acid lipase deficiency (Wolman, LIPA)
Lysosomal Storage Disease (LSD)
MAP
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (ACADM)
Melanoma
MEN1
MEN2
Metabolic/biochemical disorders
Metachromatic leukodystrophy (ARSA)
Methionine disorder
Methylmalonic aciduria and homocystinuria
Mucopolysaccharidosis Type II (Hunter, IDS)
Mucopolysaccharidosis Type I (Hurler, IDUA)
Mucopolysaccharidosis
Multiple endocrine neoplasia syndrome type 1
Multiple endocrine neoplasia syndrome type 2
MUTYH Associated Polyposis
Neuronal Ceroid Lipofuscinosis (NCL, Batten Disease)
NextGen Sequencing Test
Niemann-Pick disease
Ornithine Transcarbamylase deficiency (OTC)
Ovarian cancer
Pancreatic cancer
Paraganglioma
PDCD10
Peutz Jeghers syndrome
PGL/PCC
Pheochromocytoma
Polyposis
Pompe disease (GAA)
porphyria
Propionic acidemia
Prostate cancer
PRRT2
PSAP
PTEN Hamartoma Tumor Syndrome
Purine/pyrimidine disorders
Sanfilippo syndrome (SGSH, NAGLU, HGSNAT, GNS)
Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency (ACADS)
Skin cancer
SLC2A1
SLC6A8
Tay-Sachs Disease (HEXA)
TCF4
Thiamine disorders
Thyroid cancer
Tuberous sclerosis
UBE3A
Uterine cancer
Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency (ACADVL)
Wilms tumor
Wolfram (WFS1, CISD2)
X-linked adrenoleukodystrophy (ABCD1)
ZEB2
Zellweger syndrome
Preferred Specimen
3 mL whole blood from lavender EDTA tube
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Minimum Volume
3 ml whole blood
Other Acceptable Specimens
Whole blood collected in a yellow ACD tube
Instructions
Specimen preferred to arrive within 96 hours of collection.
Transport Container
Original collection container
Transport Temperature
Ambient or refrigerate
Specimen Stability
Varies
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.
Methodology
Sequence Capture and Next-Generation Sequencing (NGS)/Polymerase Chain Reaction (PCR) Sanger Sequencing or Multiplex Ligation-Dependent Probe Amplification (MLPA)
FDA Status
Approved
Setup Schedule
Varies
Report Available
28 to 35 days
Reference Range
Included with report
Clinical Significance
Customization of existing next-generation sequencing panels offered through Mayo Clinic Laboratories
Detection single nucleotide and copy number variants in a custom gene panel
Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for a hereditary condition
Detection single nucleotide and copy number variants in a custom gene panel
Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for a hereditary condition
Performing Laboratory
Mayo Clinic Laboratories, Rochester, Minnesota
Additional Information
Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies