Genetic Tests and Screenings

Acylcarnitine Profile

An acylcarnitine profile is a blood test used to check for the presence of genetic disorders related to fatty acid oxidation and several organic acidurieas.

Amino Acid Quantitation

An amino acids quantitation urine test is an analysis of the body’s urine that involves measuring amino acid levels.

Patients born with inborn errors of amino acid metabolism may have a variety of different medical conditions related to metabolism. These diseases typically become evident in infancy or early childhood. An amino acid quantitation test of cerebral spinal fluid is useful in diagnosing these disorders.

Amino Acid Quantitation (Free Homocysteine)

Homocysteine is a compound that occurs in the blood as a byproduct of amino acid metabolism. Elevated homocysteine levels can be an indicator of diseases related to the heart or blood vessels. An amino acid quantitation – free homocysteine test can be useful in checking free homocysteine levels in the blood and diagnosing these disorders.

Amino Acid Quantitation (Plasma)

Arylsulfatase A

Arylsulfatase A test is a blood test performed in children to diagnose an inherited disorder known as metachromatic leukodystrophy (MLD). The disease involves a deficiency of the enzyme arylsulfatase A.

Arylsulfatase B

Arylsulfatase B test is a blood test performed in children to diagnose an inherited disorder known as Maroteaux-Lamy syndrome, or mucopolysaccharidosis VI. The disease involves a deficiency of the enzyme arylsulfatase B.

Beta Galactosidase

Beta galactosidase test is a blood test performed in children to diagnose inherited disorders related to a deficiency of the beta-galactosidase enzyme. These diseases can include Morquio syndrome B, GM1 gangliosidosis and galactosialidosis.

Beta Glucosidase

Beta glucosidase test is a blood test performed in children to diagnose an inherited disorder known as Gaucher disease. Gaucher disease is related to a deficiency of the beta-glucosidase enzyme.

Beta Glucuronidase

A beta glucuronidase test is a blood test performed in children to diagnose an inherited disorder known as mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome. MPS VII is related to a deficiency of the beta- glucuronidase enzyme.

Beta Hexosaminidase

A beta hexosaminidase test is a blood test performed in children to diagnose an inherited disorder known as Tay-Sachs disease. Tay-Sachs disease is related to a deficiency of the beta-hexosaminidase enzyme.

Beta-Mannosidase

A beta mannosidase test is a blood test performed in children to diagnose an inherited disorder known as beta-mannosidosis. Beta-mannosidosis is related to a deficiency of the beta-mannosidase enzyme.

Biochemical Genetic Test: Biotinidase

Biotinidase is an enzyme in the body, which when deficient prevents the body using and reusing biotin, a vitamin that helps with the metabolism of carbohydrates, fats and proteins.

Biochemical Genetic Test: Homocysteine

Homocysteine is an amino acid (building blocks for protein production) formed when proteins are broken down.

Biochemical Genetic Test: Lactate

Lactate, or lactic acid, is a substance that is produced in muscle and blood cells, and is formed when the body breaks down carbohydrates to use for energy when cells don’t have enough oxygen.

Biochemical Genetic Test: Pyruvate

Pyruvate is an important compound that participates in the metabolism of carbohydrates, proteins and fats.

Biochemical Genetic Test: Urine Organic Acids

Metabolism is the sum of the chemical processes whereby the body builds new molecules and breaks down others to get rid of waste products and produce energy.

Biochemical Genetic Test: Urine Succinylacetone

Succinylacetone is a marker for the presence of an inherited genetic enzyme deficiency of an amino acid (building blocks for proteins) called tyrosine which frequently presents in the newborn period but can be subclinical till infancy or childhood.

Blood Labs

Blood labs is a short-hand or slang phrase for blood laboratory tests. These are common medical tests used in the diagnosis of a wide variety of medical conditions.

Carbohydrate Deficient Transferrin

Carbohydrate deficient transferrin is a substance in the blood that become altered in congenital disorders of glycosylation. Therefore, a blood test of carbohydrate deficient transferrin is frequently used to diagnose one type of disorder of glycosylation.

Carnitine - Total & Free (Plasma)

Carnitine is a compound in the body that helps your body digest fats for energy. A carnitine deficiency is related to a number of different medical problems. A carnitine total and free plasma test is a blood test that measures the amount of carnitine in the blood. It examines that amount of usable, or free, carnitine and compares it with the total amount of carnitine.

Carnitine - Total & Free (Urine)

Carnitine is a compound in the body that helps your body digest fats for energy. A carnitine deficiency is related to a number of different medical problems. A carnitine total and free urine test is a test that measures the amount of carnitine in the urine. It examines that amount of usable, or free, carnitine and compares it with the total amount of carnitine.

Carnitine Palmitoyl Transferase

Carnitine is a compound in the body that helps your body digest fats for energy. People with carnitine palmitoyl transferase deficiency (CPT I or CPT II) may have trouble using fats for energy and have a number of complications as a result. A carnitine palmitoyl transferase test is a blood test that measures the amount of carnitine in the blood and is used in the diagnosis of carnitine palmitoyl transferase deficiency.

Chromosome Studies

Chromosome studies refer to a variety of different genetic tests that medical experts can perform on a blood sample, prenatal specimen, skin biopsy or other tissue sample. The purpose of these studies is to determine the nature of genetic or inherited disorders that are present in individuals.

Complete Blood Count

A complete blood count is a common blood test that’s often taken during physicals or other medical checkups. It provides an evaluation of overall health, and also checks for certain disorders such as infection, anemia, leukemia, immune system disorders and other diseases.

Cystine Analysis - Urine Amino Acid Qt.

Testing for amino acids, which are abnormally excreted in the urine helps identify body function imbalances that can occur from inherited or acquired diseases.

Cytogenetic Testing: 2.7 M SNPs Chromosomal Microarray on Blood

Approximately 10% of children with unexplained mental problems or developmental abnormalities may have gene abnormalities which can detected by microarray technology.

Cytogenetic Testing: Fluorescent In Situ Hybridization (FISH) Testing

The FISH test is a blood test that “maps” the genetic material in a child’s cells looking for gene abnormalities which can give rise to developmental delays, autism, mental retardation and other rare genetic disorders that sometimes occur at birth.

Cytogenetic Testing: Routine Chromosome Analysis (Karyotype)

A chromosomal analysis or karyotyping is a test which examines the number and structure of your child's chromosomes. This test helps in the diagnosis of genetic diseases, some birth defects and certain abnormalities of the blood.

DNA Microarray

A DNA microarray is a blood that looks for missing or extra pieces of an individual DNA.

Enzyme Replacement Therapy

Enzyme replacement therapy is a medical procedure used to treat patients who have certain types of enzyme deficiencies.

Epimerase

The Epimerase test is a blood test conducted in infants to look for a uridine diphosphate galactose 4-epimerase deficiency.

Exome Sequencing

Exome sequencing is a complex laboratory test that involves transcribing all of the protein-coding genes in the child’s genome, to identify novel disease genes, genetic disorders and/or to confirm disease causing protein variants, without the cost of whole genome sequencing.

Fatty Acid Oxidation

Fatty acid oxidation is a basic metabolic process that allows the body to break down stored fat into their building blocks called fatty acids, in order use them for energy.

Galactitol

Galactitol is a type of sugar that results from the metabolism of galactose by an enzyme called galactokinase. When galactokinase deficiency (GALK) occurs as a fairly common inherited recessive disorder it results in an excessive accumulation of galactitol primarily in the eyes causing cataracts. Testing is by Newborn blood screening, testing for the enzyme in red blood cells and by gene analysis.

Galactokinase

Galactokinase is a common enzyme in the body that facilitates the metabolism of the sugar galactose found in dairy and some fruits and vegetables. The newborn blood screening test examines for the blood level of galactokinase which usually will identify a deficiency.

Galactose-1-Phosphate

Galactose is a sugar found primarily in milk and other dairy products which after absorption is broken down (metabolized to glucose) and used by the body’s cells to produce energy. When an enzyme that facilitates this (galactose-1-phosphate uridyl transferase-GALT) is deficient galactose-1-phosphate accumulates in the blood. This disorder is called galactosemia, the most common of a group of inherited disorders of galactose metabolism.

Galactosemia Quantitation

Galctose-1-phosphate uridyltransferase (GALT) is an enzyme responsible for one step in this process. When this is absent/deficient galactose cannot be changed to glucose and results in a number of clinical abnormalities. Galactosemia quantitation is a blood test that checks the levels of the enzyme known as GALT.

Genetic Screening

Genetic screening refers to a wide variety of tests performed on blood and tissue to screen for genetic disorders.

Genome Sequencing

Whole genome sequencing is a complex laboratory technique that involves transcribing in a single process, all of the genes in a genome (which is all of a child’s genetic material).

Hearing Loss Panel

The hearing loss panel is a medical test that helps in the diagnosis of some genetic causes of hearing loss.

HLA Antibody Screening, Crossmatching and Engraftment Monitoring

HLA antibody screening, crossmatching and engraftment monitoring is a medical test used to determine how well a body’s immune system will accept or is accepting an organ transplant, skin graft or another introduction of foreign tissues to the body.

HLA Typing by Next Generation Sequencing

Human leukocyte antigens, or HLA, are proteins that the body produces in response to foreign invaders. High-resolution HLA typing by next generation sequencing is a cutting edge, complex method of coding an individual’s entire HLA genetic makeup in order to better understand their unique immune response.

I-cell Disease Test

Biochemical testing for I-cell disease involves the collection and analysis of plasma and urine. The activity of certain enzymes is increased when I-cell disease is present.

Lactate and Pyruvate Ratio

A lactate and pyruvate blood test is helpful in evaluating for several disorders related to mitochondrial metabolism that may be present at birth.

Lysosomal Storage Disease Enzyme Testing

LSD enzyme testing (also called a lysosomal enzyme screen) is a biochemical test to look for the presence of a number of lysosomal enzymes in the blood.

Methylmalonic Acid (Plasma)

A plasma methylmalonic acid test is a test to determine the levels of methylmalonic acid in the blood plasma.

Molecular Genetic Testing

Molecular genetic testing refers to a wide variety of tests performed on blood and tissue to screen for genetic disorders.

Molecular genetic testing for epilepsy

The epilepsy panel test specifically looks for variations in DNA that can predispose people to disorders that cause epilepsy.

Molecular Genetic Testing: Fragile X

Molecular genetic testing refers to a wide variety of tests performed on blood and tissue to screen for genetic disorders. The fragile X test specifically looks for variations in DNA that can predispose people to fragile X syndrome. Fragile X syndrome causes a number of development problems, including cognitive impairment and learning disabilities.

Molecular Genetic Testing: Thrombophilia Panel

Molecular genetic testing refers to a wide variety of tests performed on blood and tissue to screen for genetic disorders. A thrombophilia panel specifically looks for variations in DNA that can predispose people to thromboembolism later in life. A thromboembolism is a blood clot that can pose risks to people later in life, such as leg pain or stroke.