MEDgomics Sophisticated Genetic Testing Partners with Referring Physicians for Personalized Medical Treatment

Physician’s Portal

Why Should Physicians Partner with MEDgomics?

We offer an array of genetic tests dealing with the Mi IDEA Diseases.
Each of our specific tests are labeled with their corresponding Mi IDEA
(Mitochondrial Disease, Intellectual Disability, Epilepsy, and Autism)
Disease.

MI-pMED3 looks at the Mitochondrial Genes and is used in conjunction with our other tests.

A-pMED3 is for Autism Spectrum Disorder.

E-pMED3 is for the analysis of Epilepsy.

ID-pMED3 deals with Intellectual Disability.

MitoGen is specific for Mitochondrial Genome and offers a more in-depth analysis for Mitochondrial Disease.

TheEx20- pMED3 test is our more comprehensive option as
it sequences the whole exome and is often recommended for further and/or
followup testing.

Please fill out the form with any questions you may have about what
test is right for you and/or your family. We will provide a free MD
consult with our Founder, Lead Geneticist, and Medical Director Steve
Sommer MD PhD. Additional questions may also be answered in our FAQ.

A-pMED3

Recognizing the complex clinical phenotype of patients with autism
spectrum disorders (ASD), MEDgomics offers the pMED3/A test that
analyzes 1204 nuclear-encoded mitochondrial residing or mitochondrial
related genes plus 75 additional nuclear genes known to contribute to
ASD.

The coding sequence and the exon/intron boundaries are analyzed by
harnessing the massively parallel power of Next Generation Sequencing
(NGS) to detect heterozygous or homozygous mutations. The NGS data is
analyzed by MEDgomics scientists to detect at least three different
types of mutations: 1) point mutations that cause a nonsense mutation or
an amino acid substitution, 2) point mutations that cause a splicing
abnormality, and 3) micro-deletions/insertions that cause a frame shift
in protein sequence. Through a combination of comprehensive NGS and
proprietary advances in bioinformatics and interpretation methods
pioneered at MEDgomics, our physicians and patients are provided with
best-in-class, state-of-the-art interpretation of the functional
significance of detected mutations. Most of the cost resides in the
detailed expert interpretation.

Although the behavioral and cognitive impairments associated with ASD
have been described in patients with various single-gene disorders, the
majority of ASD patients are currently postulated to be non-Mendelian.
Patients with ASD may also suffer from additional abnormalities in
physiological pathways outside of the central nervous system:
neuromuscular, endocrine, gastrointestinal, redox regulation, and energy
generation. Several lines of evidence suggest that mitochondrial
dysfunction may contribute to many of the physiological abnormalities
associated with ASD. First, many of the clinical features of ASD, such
as muscle weakness, developmental delay, and gastrointestinal problems,
are also found in patients who suffer from mitochondrial disease.
Second, mitochondrial dysfunction can explain why individuals with ASD
are under higher oxidative stress and have reduced levels of
antioxidants. Third, animal models of syndromes with ASD features (e.g.,
UBE3A and MECP2 mouse models) also show evidence of mitochondrial
dysfunction. A recent review estimates that the majority of patients
with ASD have concomitant mitochondrial disease. Therefore, the pMED3/A
test is uniquely suited to provide medically-actionable information
through the identification of patients with ASD and underlying
mitochondrial dysfunction.

MI-pMED3

The core GenosticsN-1204™ harnesses the power of Next Generation
Sequencing (NGS), coupled with advanced proprietary bioinformatics and
interpretation pioneered at MEDgomics, to sequence 1204 nuclear genes
encoding proteins that function in the mitochondria or whose defects can
mimic -disease. The GenosticsN-1204™ test, in conjunction with the
MitoGen™ test (that provides deep heteroplasmy analysis of the
mitochondrial genome), offer comprehensive diagnostic testing that can
elucidate the patient’s pathophysiology to guide targeted treatment.
These tests may also assist with enrollment into drug treatment trials
that require defined disease mechanisms.

The coding sequence and the exon/intron boundaries are analyzed by
harnessing the massively parallel power of Next Generation Sequencing
(NGS) to detect heterozygous or homozygous mutations. The NGS data is
analyzed by pMED3 scientists to detect at least three different types of
mutations: 1) point mutations that cause a nonsense mutation or an
amino acid substitution, 2) point mutations that cause a splicing
abnormality, and 3) micro-deletions/insertions that cause a frame shift
in protein sequence. Through a combination of comprehensive NGS and
proprietary advances in bioinformatics and interpretation methods
pioneered at MEDgomics, our physicians and patients are provided with
best-in-class, state-of-the-art interpretation of the functional
significance of detected mutations. Most of the cost resides in the
detailed expert interpretation.

ID-pMED3

Recognizing the genetic heterogeneity and complex clinical phenotype
of patients with intellectual disability, MEDgomics offers the
GenosticsN-ID™ test that analyzes 1204 nuclear-encoded mitochondrial
residing or mitochondrial related genes plus 110 additional nuclear
genes known to cause or contribute to intellectual disability.

Inborn errors in development can give rise to deficits in cognitive
function and adaptive learning, leading to intellectual disability (IQ
< 70) and possible behavioral problems throughout an individual’s
life-time. The genetic etiology of intellectual disability (ID) includes
cytogenetic rearrangements, submicroscopic copy number variations,
defects in epigenetic regulation, and single gene mutations. On the X
chromosome alone, ~200 medical conditions and ~90 genes include ID as
part of the phenotype. This so-called X-linked intellectual disability
(XLID) affects approximately 1 in 600 males and a significant number of
females. In addition to X-linked causes, a large number of conditions
caused by inborn errors of metabolism also have ID as part of the
clinical spectrum. Moreover, defects in mitochondrial proteins caused by
mutations in either the mitochondrial (mtDNA) or nuclear genomes can
cause ID as part of a larger clinical phenotype. Therefore, the
GenosticsN-ID™ test is uniquely suited to provide medically-actionable
information through the identification of patients with X-linked and
autosomal ID and underlying mitochondrial or metabolic dysfunction.

The coding sequence and the exon/intron boundaries are analyzed by
harnessing the massively parallel power of Next Generation Sequencing
(NGS) to detect heterozygous or homozygous mutations. The NGS data is
analyzed by MEDgomics scientists to detect at least three different
types of mutations: 1) point mutations that cause a nonsense mutation or
an amino acid substitution, 2) point mutations that cause a splicing
abnormality, and 3) micro-deletions/insertions that cause a frame shift
in protein sequence. Through a combination of comprehensive NGS and
proprietary advances in bioinformatics and interpretation methods
pioneered at MEDgomics, our physicians and patients are provided with
best-in-class, state-of-the-art interpretation of the functional
significance of detected mutations. Most of the cost resides in the
detailed expert interpretation.

E-pMED3

Recognizing the complexity of assigning a molecular diagnosis to 
epilepsy, MEDgomics offers comprehensive genetic testing for syndromic 
and non-syndromic epilepsy through the pMED3/E test that analyzes 1204 
nuclear-encoded mitochondrial residing or mitochondrial related genes 
plus 343 genes known to cause or contribute to epilepsy.

Epilepsy may be an isolated neurological malady, or it may occur as 
part of a more complex clinical phenotype. A comprehensive genetic 
testing strategy is important to: 1) establish a genetic cause of 
idiopathic epilepsy, 2) confirm a clinical diagnosis of epilepsy, 3) 
distinguish between syndromic and non-syndromic forms of epilepsy, and 
4) assist in the selection of treatment options. The genetic etiology of
epilepsy can range from mutations in genes encoding subunits of 
neuronal ion channels to mutations in genes that cause inborn errors of 
metabolism to mutations in genes that cause mitochondrial dysfunction. 
Approximately 25-50% of patients with biochemically confirmed 
mitochondrial disease may have seizures. An added value of the MEDgonics
approach to epilepsy testing is that certain pharmacogenomic 
susceptibility to toxicity by anti-seizure medications can be defined.

The coding sequence and the exon/intron boundaries are analyzed by 
harnessing the massively parallel power of Next Generation Sequencing 
(NGS) to detect heterozygous or homozygous mutations. The NGS data is 
analyzed by pMED3 scientists to detect at least three different types of
mutations: 1) point mutations that cause a nonsense mutation or an 
amino acid substitution, 2) point mutations that cause a splicing 
abnormality, and 3) micro-deletions/insertions that cause a frame shift 
in protein sequence. Through a combination of comprehensive NGS and 
proprietary advances in bioinformatics and interpretation methods 
pioneered at MEDgomics, our physicians and patients are provided with 
best-in-class, state-of-the-art interpretation of the functional 
significance of detected mutations. Most of the cost resides in the 
detailed expert interpretation.

Analysis of Maternal Chromosomes – MitoGen

The MEDgomics MitoGEn™ test analyzes the DNA sequence of the entire
mitochondrial genome (mtDNA) and is capable of detecting all mutations
in any of the 37 mitochondrial DNA genes. Each cell contains hundreds to
thousands of mitochondria with a unique circular DNA molecule.
Therefore, any particular tissue may contain mitochondrial DNA molecules
that are all identical (i.e., “homoplasmic”), or may be contain
fractions of normal and mutant mitochondrial DNA. When both normal and
mutant mitochondrial DNA molecules exist, the mitochondria are said to
be “heteroplasmic”. Both homoplasmic and heteroplasmic mutations can
cause mitochondrial disease.

Heteroplasmic mtDNA mutations may be present at different levels in
different tissues. Affected organs or tissues (e.g., brain, muscle) may
have higher mutant levels than blood. Since blood is readily accessible
for minimally invasive testing, it is important to be able to detect low
mutant levels in blood that may indicate higher levels in affected
organs or issues. The MitoDx test utilizes proprietary Next Generation
Sequencing (NGS) methods to accurately measure mtDNA heteroplasmy at
frequencies that are below the threshold of detection by other
diagnostic methods. Thus, MitoGen testing of a patient’s blood sample
may reveal disease affecting other organs or tissues. MEDgomics’
proprietary NGS and bioinformatics methods have set the industry
standard for the most sensitive and accurate detection of mitochondrial
DNA mutations.

Ex20- pMED3

Whole exome sequencing by Next Generation Sequencing (NGS) has 
ushered in the era of the Interpretive Diagnostic ExOMe. For the Ex20Fu™
test, the coding sequence and the exon/intron boundaries of ~20,000 
protein-coding genes are analyzed by harnessing the massively parallel 
power of NGS. MEDgomics proprietary bioinformatics pipeline is used to 
map and compare the patient’s DNA sequence to that of a reference 
sequence and to control individuals, as well as assess the depth of 
coverage and data quality. The exome sequence data is analyzed 
by MEDgomics mutations that cause a nonsense mutation or an amino acid 
substitution, 2) point mutations that cause a splicing abnormality, and 
3) micro-deletions/insertions that cause a frame shift in the protein 
sequence. Clinical exome interpretation includes an analysis of protein 
“truncoid” mutations (stop codons, critical splice junction mutations, 
and microdeletions or insertions) and an analysis of the presence of any
of the many thousands of putative mutations listed in the Human Gene 
Mutation Database (HGMD). The presence of such variants triggers a more 
detailed analysis of other variants in that gene.

The coding sequence and the exon/intron boundaries are analyzed by 
harnessing the massively parallel power of Next Generation Sequencing 
(NGS) to detect heterozygous or homozygous mutations. Through a 
combination of comprehensive NGS and proprietary advances in 
bioinformatics and interpretation methods pioneered at MEDgomics, our 
physicians and patients are provided with best-in-class, 
state-of-the-art interpretation of the functional significance of 
detected mutations. Most of the cost resides in the detailed expert 
interpretation.