Genetic Tests and Procedures

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. Learn more

Amino Acid Quantitation

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

Amino Acid Quantitation (CSF)

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. Learn more

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. Learn more

Amino Acid Quantitation (Plasma)

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 plasma is useful in diagnosing these disorders. Learn more

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. Learn more

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. Learn more

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. Learn more

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. Learn more

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. Learn more

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. Learn more

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. Learn more

Biochemical Genetic Test: Acylcarnitine

Carnitine is a generic name given to a number of compounds formed primarily from the building blocks of proteins (amino acids) by the kidneys and liver which play an important role in converting fats into energy for cell function (metabolism). Learn more

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. Learn more

Biochemical Genetic Test: Carnitine Plasma and Urine

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Biochemical Genetic Test: CSF Amino Acids

A CSF amino acid test examines the amounts and types of amino acids found in the CSF and can be useful in diagnosing different disorders/diseases involving the brain and spinal cord. Learn more

Biochemical Genetic Test: Homocysteine

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

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. Learn more

Biochemical Genetic Test: Plasma Amino Acids

Amino acids are the building blocks that the body uses to make proteins Learn more

Biochemical Genetic Test: Plasma Carnitine

Carnitine is a generic name given to a number of compounds formed primarily from the building blocks of proteins (amino acids) by the kidneys and liver which play an important role in converting fats into energy for cell function (metabolism). Learn more

Biochemical Genetic Test: Pyruvate

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

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. Learn more

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. Learn more

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. Learn more

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. Learn more

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. Learn more

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. Learn more

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. Learn more

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. Learn more

Cystine Analysis - Urine Amino Acid Qt.

Cystine is a compound that forms in crystals in the kidneys, ureters and bladder from a specific inherited disease of an amino acid passed down from parent to child through a defect in their genes. Cystine analysis – urine amino acid qt. is a test of the urine that examines amino acid levels, including cystine. Learn more

Cytogenetic Testing: 2.7 M SNPs Chromosomal Microarray on Blood

SNP’s or single nucleotide polymorphisms are single abnormalities in genes on your child’s chromosomes (the material that’s passed from parent to child). Learn more

Cytogenetic Testing: Fluorescent In Situ Hybridization (FISH) Testing

The FISH (fluorescent in situ hybridization) test is a blood test that “maps” the genetic material (passed from parent to child during maternal fertilization) in a child’s cells looking particularly for gene abnormalities which can give rise to developmental delays, autism, mental retardation and other rare genetic disorders that sometimes occur at birth. Learn more

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. Learn more

DNA Microarray

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

Enzyme Replacement Therapy

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

Epimerase

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

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. Learn more

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. Learn more

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. Learn more

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. Learn more

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. Learn more

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. Learn more

Genetic Screening

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

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). Learn more

Hearing Loss Panel

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

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. Learn more

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. Learn more

I-cell Disease (Enzymes Analyzed in Plasma/Serum)

I-cell disease is a rare genetic disorder also known as mucolipidosis II (ML II). It causes symptoms such as skeletal abnormalities, rough facial features, mental disabilities, death usually occurs in childhood. 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. Learn more

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. These disorders tend to cause problems such as neurological dysfunction and/or myopathic dysfunction. Specifically, the test measures the ratio of lactate to pyruvate in the blood. Learn more

Lactate: Pyruvate Ratio

A lactate: pyruvate (CSF) test is helpful in evaluating for several disorders related to mitochondrial metabolism that may be present at birth. Learn more

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. Learn more

Methylmalonic Acid (Plasma)

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

Molecular Genetic Testing

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

Molecular Genetic Testing: Epilepsy Panel

Molecular genetic testing refers to a wide variety of tests performed on blood and tissue to screen for genetic disorders. The epilepsy panel test specifically looks for variations in DNA that can predispose people to disorders that cause epilepsy. Learn more

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. Learn more

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. Learn more

Myoinositol

Myoinositol refers to a potential treatment for fertility in women with polycystic ovarian syndrome (PCOS). Learn more

Non Esterified Free Fatty Acid (NEFFA)

Measuring the level of non esterified free fatty acids, the major component of triglycerides in the bloodstream is useful in determining how well somebody is controlling their non-insulin-dependent diabetes mellitus symptoms. Learn more

Organic Acid Quantitation

Organic acid quantitation is a test that can help identify a number of genetic disorders that impact metabolism. Learn more

Organic Acid Quantitation (Methylmalonic Acid)

Organic acid quantitation - methylmalonic acid is a test that can help diagnose a rare metabolic genetic disorder known as methylmalonic acidemia (MMA). Learn more

Organic Acid Quantitation (Succinylacetone)

Organic acid quantitation - succinylacetone is a test that can help diagnose a rare genetic disorders known as tyrosinemia type 1 Learn more

Orotic Acid

Orotic acid is a substance commonly found high levels in the urine of people who have metabolic or urea cycle disorders. Learn more

Sanfilippo B (Lysosomal Enzyme - MPS III)

Sanfilippo syndrome (also known as MPS III) is a genetic disorder in which the body cannot break down certain large sugar molecules due to missing enzymes. Learn more

Sphingomyelinase (Lysosomal Enzyme for Niemann-Pick Disease)

Niemann-Pick disease is a disorder that affects the body’s ability to breakdown lipids. Learn more