Sanger Sequencing

3-Methylcrotonylglycinuria: MCCC1/MCCC2 Sequencing

MCCC1 sequencing is a molecular test used to identify variants in one of the genes associated with 3-Methylcrotonylglycinuria.

Aarskog Syndrome: FGD1 Sequencing

FGD1 sequencing is a molecular test used to identify variants in the gene associated with Aarskog syndrome.

Acid Sphingomyelinase Deficiency (ASMD): SMPD1 Sequencing

SMPD1 sequencing is a molecular test used to identify variants in the gene associated with Niemann-Pick A/B disease.

Adrenoleukodystrophy, X-Linked: ABCD1 Sequencing

ABCD1 sequencing is a molecular test used to identify variants in the gene associated with X-linked Adrenoleukodystrophy.

Alpha-mannosidosis: MAN2B1 Sequencing

MAN2B1 sequencing is a molecular test used to identify variants in the gene associated with Alpha-Mannosidosis.

Angelman Syndrome: UBE3A Sequencing

UBE3A sequencing is a molecular test used to identify variants in the gene associated with Angelman syndrome.

ARX-Related Spectrum of X-Linked Intellectual Disability (XLID): ARX Sequencing

ARX sequencing is a molecular test used to identify variants in the gene associated with ARX-Related X-Linked Intellectual Disability XLID.

Aspartylglucosaminuria: AGA Sequencing

AGA sequencing is a molecular test used to identify variants in the gene associated with Aspartylglucosaminuria.

Beckwith-Wiedemann Syndrome (BWS): CDKN1C Sequencing

CDKN1C sequencing is a molecular test used to identify variants in the gene associated with Beckwith-Wiedemann Syndrome.

Beta-mannosidosis: MANBA Sequencing

MANBA sequencing is a molecular test used to identify variants in the gene associated with Beta-mannosidosis.

Biotinidase Deficiency: BTD Sequencing

BTD sequencing is a molecular test used to identify variants in the gene associated with Biotinidase deficiency.

Carnitine Palmitoyltransferase IA Deficiency: CPT1A Sequencing

CPT1A sequencing is a molecular test used to identify variants in the gene associated with Carnitine Palmitoyltransferase IA Deficiency.

Carnitine Palmitoyltransferase II Deficiency: CPT2 Sequencing

CPT2 sequencing is a molecular test used to identify variants in the gene associated with Carnitine Palmitoyltransferase II Deficiency.

Central Hypoventilation Syndrome: PHOX2B Sequencing

CHD7-Related Disorders: CHD7 Sequencing

CHD7 sequencing is a molecular test used to identify variants in the gene associated with CHD7-related disorders including CHARGE syndrome and Kallman syndrome 5.

Citrullinemia Type 1: ASS1 Sequencing

ASS1 sequencing is a molecular test used to identify variants in the gene associated with Citrullinemia, Type 1.

Coffin-Lowry Syndrome: RPS6KA3 Sequencing

RPS6KA3 sequencing is a molecular test used to identify variants in the gene associated with Coffin-Lowry syndrome.

Connexin 26: GJB2 Sequencing

This test includes sequencing of the coding region.

Copper Transport Disorders: ATP7A Sequencing

ATP7A sequencing is a molecular test used to identify variants in the gene associated with Copper Transport Disorders.

Creatine Transporter Deficiency: SLC6A8 Sequencing

SLC6A8 sequencing is a molecular test used to identify variants in the gene associated with Creatine Transporter Deficiency.

Cystic Fibrosis: CFTR Sequencing

CFTR sequencing is a molecular test used to identify variants in the gene associated with Cystic Fibrosis.

Fabry Disease: GLA Sequencing

GLA sequencing is a molecular test used to identify variants in the gene associated with Fabry Disease.

FGFR2-Related Disorders: FGFR2 Sequencing

Fucosidosis: FUCA1 Sequencing

FUCA1 sequencing is a molecular test used to identify variants in the gene associated with Fucosidosis.

Galactosemia: GALT Sequencing

GALT sequencing is a molecular test used to identify variants in the gene associated with Galactosemia.

Galactosialidosis: CTSA Sequencing

CTSA sequencing is a molecular test used to identify variants in the gene associated with Galactosialidosis.

Gaucher Disease: GBA Sequencing

GBA sequencing is a molecular test used to identify variants in the gene associated with Gaucher Disease.

Glutaric Acidemia Type I: GCDH Sequencing

GCDH sequencing is a molecular test used to identify variants in the gene associated with Glutaric Acidemia, Type I.

GM1 Gangliosidosis/Morquio Syndrome B (MPS IVB): GLB1 Sequencing

GLB1 sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis IVB (MPS IVB), GM1 Gangliosidosis, Morquio syndrome B.

Hunter Syndrome (MPS II): IDS Sequencing

IDS sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis II (MPS II), Hunter Syndrome. This analysis also includes MLPA to identify copy number variants as well as analysis for the common inversion between IDS and IDS-2.

Hurler Syndrome (MPS I): IDUA Sequencing

IDUA sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis I (MPS I), Hurler Syndrome.

Kabuki Syndrome 2: KDM6A Sequencing

KDM6A sequencing is a molecular test used to identify variants in the gene associated with Kabuki Syndrome 2.

Kabuki Syndrome: KMT2D Sequencing

KMT2D sequencing is a molecular test used to identify variants in the gene associated with Kabuki syndrome.

Krabbe Disease: GALC Sequencing

GALC sequencing is a molecular test used to identify variants in the gene associated with Krabbe Disease.

Marfan Syndrome: FBN1 Sequencing

FBN1 sequencing is a molecular test used to identify variants in the gene associated with Marfan syndrome.

Maroteaux-Lamy Syndrome (MPS VI): ARSB Sequencing

ARSB sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis VI (MPSVI), Maroteaux-Lamy syndrome.

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: ACADM Sequencing

ACADM sequencing is a molecular test used to identify variants in the gene associated with Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

Metachromatic Leukodystrophy: ARSA Sequencing

ARSA sequencing is a molecular test used to identify variants in the gene associated with Metachromatic Leukodystrophy.

Morquio Syndrome A (MPS IVA): GALNS Sequencing

GALNS sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis IVA (MPSIVA), Morquio syndrome A .

Mucolipidosis II & III Alpha/Beta: GNPTAB Sequencing

GNPTAB sequencing is a molecular test used to identify variants in the gene associated with Mucolipidosis II & III Alpha/Beta.

Mucolipidosis III Gamma: GNPTG Sequencing

GNPTG sequencing is a molecular test used to identify variants in the gene associated with Mucolipidosis III Gamma.

Myotubular Myopathy, X-Linked: MTM1 Sequencing

MTM1 sequencing is a molecular test used to identify variants in the gene associated with X-linked Myotubular Myopathy.

Neuronal Ceroid Lipofuscinosis 1 (CLN1): PPT1 Sequencing

PPT1 sequencing is a molecular test used to identify variants in the gene associated with Neuronal Ceroid Lipofuscinosis Type 1 (CLN1).

Neuronal Ceroid Lipofuscinosis 2 (CLN2): TPP1 Sequencing

TPP1 sequencing is a molecular test used to identify variants in the gene associated with Neuronal Ceroid Lipofuscinosis Type 2 (CLN2).

Ornithine Transcarbamylase Deficiency: OTC Sequencing

OTC sequencing is a molecular test used to identify variants in the gene associated with Ornithine transcarbamylase deficiency.

Pelizaeus-Merzbacher Disease, Spastic Paraplegia: PLP1 Sequencing

PLP1 sequencing is a molecular test used to identify variants in the gene associated with Pelizaeus-Merzbacher Disease, Spastic Paraplegia.

Phenylketonuria: PAH Sequencing

PAH sequencing is a molecular test used to identify variants in the gene associated with Phenylketonuria.

Pompe Disease, Glycogen Storage Disease Type II: GAA Sequencing

GAA sequencing is a molecular test used to identify variants in the gene associated with Glycogen Storage Disease Type II, Pompe disease.

Primary Carnitine Deficiency, Systemic: SLC22A5 Sequencing

SLC22A5 sequencing is a molecular test used to identify variants in the gene associated with Primary Carnitine Deficiency, systemic.

PTEN-Related Disorders: PTEN Sequencing

PTEN sequencing is a molecular test used to identify variants in the gene associated with PTEN-related disorders including Cowden syndrome and Bannayan-Riley Ruvalcaba syndrome.

PTPN11-Related Disorders: PTPN11 Sequencing

PTPN11 sequencing is a molecular test used to identify variants in the gene associated with PTPN11- related disorders including Noonan syndrome and LEOPARD syndrome.

Rett Syndrome: MECP2 Sequencing

MECP2 sequencing is a molecular test used to identify variants in the gene associated with Rett syndrome.

Saethre-Chotzen Syndrome: TWIST1 Sequencing

TWIST1 sequencing is a molecular test used to identify variants in the gene associated with Saethre-Chotzen syndrome.

Sandhoff Disease: HEXB Sequencing

HEXB sequencing is a molecular test used to identify variants in the gene associated with Sandhoff Disease.

Sanfilippo Syndrome A (MPS IIIA): SGSH Sequencing

SGSH sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis IIIA (MPS IIIA), Sanfilippo syndrome A.

Sanfilippo Syndrome B (MPS IIIB): NAGLU Sequencing

NAGLU sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis IIIB (MPS IIIB), Sanfilippo syndrome B.

Sanfilippo Syndrome C (MPS IIIC): HGSNAT Sequencing

HGSNAT sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis IIIC (MPS IIIC), Sanfilippo syndrome C.

Sanfilippo Syndrome D (MPS IIID): GNS Sequencing

GNS sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis IIID (MPS IIID), Sanfilippo syndrome D.

Short-Chain Acyl-CoA Dehydrogenase Deficiency: ACADS Sequencing

ACADS sequencing is a molecular test used to identify variants in the gene associated with Short-Chain Acyl-CoA Dehydrogenase Deficiency.

Sialidosis: NEU1 Sequencing

NEU1 sequencing is a molecular test used to identify variants in the gene associated with Sialidosis .

Sly Syndrome (MPS VII): GUSB Sequencing

GUSB sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis VII (MPS VII), Sly Syndrome.

Sotos Syndrome: NSD1 Sequencing

NSD1 sequencing is a molecular test used to identify variants in the gene associated with Sotos syndrome.

Spinal Muscular Atrophy: SMN1 Sequencing

SMN1 sequencing is a molecular test used to identify sequence alterations in the gene associated with Spinal Muscular Atrophy, SMA.

STRC-Related Disorders: STRC Sequencing

STRC sequencing is a molecular test used to identify variants in the gene associated with STRC-related disorders including type 16 autosomal recessive deafness.

Tay-Sachs Disease: HEXA Sequencing

HEXA sequencing is a molecular test used to identify variants in the gene associated with Tay-Sachs Disease.

TP63-Related Disorders: TP63 Sequencing

TP63 sequencing is a molecular test used to identify variants in the gene associated with TP63-related disorders including Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome, Hay-Wells syndrome, and split-hand/split foot malformation.

Very Long Chain Fatty Acid Deficiency: ACADVL Sequencing

ACADVL sequencing is a molecular test used to identify variants in the gene associated with Very Long Chain Fatty Acid Deficiency.

X-Linked Hydrocephalus: L1CAM Sequencing

L1CAM sequencing is a molecular test used to identify variants in the gene associated with X-Linked Hydrocephalus.