3-Methylcrotonylglycinuria: MCCC1/MCCC2 Sequencing
Test code: DMC2
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify variants in the genes associated with 3-Methylcrotonylglycinuria.
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Acid Sphingomyelinase Deficiency (ASMD): SMPD1 Sequencing
Test code: DSMP
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with acid sphingomyelinase deficiency (Niemann-Pick A/B disease).
Acylcarnitine Profile
Test code: BACY
TAT: 10 days
This biochemical test measures acylcarnitines for patients with a clinical suspicion of several fatty acid oxidation disorders and organic acidurias.
Adrenoleukodystrophy, X-Linked: ABCD1 Sequencing
Test code: DABC
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with X-linked Adrenoleukodystrophy.
Alpha-mannosidosis Serum Oligosaccharide Analysis
Test code: BSAM
TAT: 21 days
This biochemical test measures oligosaccharides in patients with alpha-mannosidosis.
Alpha-mannosidosis: Alpha-mannosidase Enzyme Analysis
Test code: BAMNL, BAMND, BAMNF
TAT: 14 days
This biochemical test measures alpha-mannosidase enzyme activity.
Alpha-mannosidosis: MAN2B1 Sequencing
Test code: DMAN
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with alpha-mannosidosis.
Amino Acid Analysis, CSF
Test code: BCAA
TAT: 5 days
This biochemical test measures amino acids to help detect abnormalities associated with inborn errors of metabolism.
Amino Acid Analysis, Plasma
Test code: BPAA
TAT: 5 days
This biochemical test measures amino acids to help detect abnormalities associated with inborn errors of metabolism.
Amino Acid Analysis, Urine
Test code: BUAA
TAT: 7 days
This biochemical test measures amino acids to help detect abnormalities associated with inborn errors of metabolism.
Angelman Syndrome Methylation-Specific MLPA
Test code: DANG
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to detect methylation abnormalities and copy number variants associated with Angelman syndrome.
Angelman Syndrome: (15q11q13) FISH Analysis
Test code: CASS
TAT: 28 days
A cytogenetic test used to identify identify deletions or duplications in chromosome region 15q11q13.
Aortic Dysfunction/Dilation & Related Disorders NGS Panel
Test code: DAOR
TAT: 8 weeks
A panel of 20 genes intended for patients with a diagnosis or clinical suspicion of aortic dysfunction, dilation, and related disorders.
Aspartylglucosaminuria: AGA Sequencing
Test code: DAGA
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with aspartylglucosaminuria.
Aspartylglucosaminuria: Aspartyglucosaminidase Enzyme Analysis
Test code: BASGL, BASGP, BASGD
TAT: 14 days
This biochemical test measures aspartyglucosaminidase enzyme activity.
Questions About Testing?
Connect With Our Experts
Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC