Test Catalog

Test ID: CGPH    
Custom Gene Panel, Hereditary, Next-Generation Sequencing (NGS), Varies

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

Customization of existing next-generation sequencing (NGS) 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

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

See Targeted Genes and Methodology Details for Inborn Errors of Metabolism Custom Gene Panel in Special Instructions and Method Description for additional details.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Pricing for the Custom Gene Panel, Hereditary will be based on the number of genes selected (1, 2-14, 15-49, 50-100, 101-500 and greater than 500).

Special Instructions Library of PDFs including pertinent information and forms related to the test

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

Custom Sequence Capture and Next-Generation Sequencing (NGS)/Polymerase Chain Reaction (PCR), Sanger Sequencing and/or Multiplex Ligation-Dependent Probe Amplification (MLPA)

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


Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Custom Gene Panel, Hereditary

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

NextGen Sequencing Test
Custom Gene Ordering
Custom Gene Panel
Custom NGS Panel
Custom ordering
Custom Panels
Custom Sequencing Panels
Custom sequencing test
Customizable Hereditary Panels
Customizable Panels
Inborn errors of metabolism
Metabolic/biochemical disorders
Congenital Disorders of Glycosylation (CDG)
Lysosomal Storage Disease (LSD)
Glycogen Storage Disease (GSD)
Neuronal Ceroid Lipofuscinosis (NCL, Batten Disease)
Zellweger syndrome
Fabry disease (GLA)
Pompe disease (GAA)
Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency (ACADVL)
Mucopolysaccaridosis Type I (Hurler, IDUA)
Mucoplolysaccaridosis Type II (Hunter, IDS)
Krabbe Disease (GALC)
Gaucher disease (GBA)
X-linked adrenoleukodystrophy (ABCD1)
Carnitine Palmitoyltransferase II Deficiency (CPT2)
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (ACADM)
Tay-Sachs Disease (HEXA)
Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency (ACADS)
Carnitine-Acylcarnitine Translocase Deficiency (SLC25A20)
Biotinidase Deficiency (BTD)
Methylmalonic aciduria and homocystinuria
Sanfilippo syndrome (SGSH, NAGLU, HGSNAT, GNS)
Wolfram (WFS1, CISD2)
Lysosomal acid lipase deficiency (Wolman, LIPA)
Niemann-Pick disease
Acylglycerol disorders
GABA disorders
Methionine disorder
3-MCC deficiency
Biotin disorders
Copper disorders
Fructose disorders
Glutaric aciduria
Propionic academia
Thiamine disorders
Purine/pyrimidine disorders
Ornithine Transcarbamylase deficiency (OTC)
Alexander disease (GFAP)
Metachromatic leukodystrophy (ARSA)