Carrier Screening

Test Information Sheet

Whole Exome Sequencing (WES), MLPA, PCR Amplification

 

Description:

Pre-conception carrier screening has been a widely adopted method over the years to determine a couple’s risk of having an affected child of certain autosomal recessive and X-linked disorders. Improvements in technology and scientific knowledge has allowed for more expanded carrier screening with greater detection rates of mutations for various populations. The Carrier Screening test analyzes and interprets 356 genes to give the test subject insights about their carrier status for diseases that are severe and/or debilitating (Table 1). With this knowledge he or she and the healthcare providers involved in their care could personalize their reproductive management plan to better prepare for and potentially prevent diseases in their future children.

 

Whole exome sequencing (WES) can be used to analyze most of the genes in an individual at one time to identify the mutation(s) that are causing a genetic disorder or for health screening purposes. This test is most appropriate for individuals who wish to have children to determine their carrier status of disease and determine their pregnancy risk of having an affected child. WES targets the protein-coding regions of the genome, which represents approximately 20,000 genes and about 2% of the genome. Individual exons of each gene are initially captured or separated from the rest of the genome and analyzed using massively parallel sequencing. The patient’s sequence is then compared to the reference genome sequence to identify variants that are different to determine their carrier status of potentially pathogenic, or likely pathogenic variants. Ideally, this test is performed by sequencing the patient and his or her partner together to accurately identify the  inherited variants for diseases of autosomal recessive inheritance or X-linked inheritance in females and thus their pregnancy risk of having an affected child.

 

*Fragile X CGG Repeat Analysis of the FMR1 gene is performed by PCR amplification using Asuragen, Inc. AmplideX® FMR1 PCR reagents followed by capillary electrophoresis for allele sizing is performed. Analysis of FMR1 is performed in association with sequencing of the coding regions.

 

*Spinal Muscular Atrophy (SMA) testing analyzes the copy numbers of the SMN1 and SMN2 genes using the Multiplex Ligation-Dependent Probe Amplification (MLPA) method. The individual dosage of exons 7 and 8 as well as the combined dosage of exons 1, 4, 6 and 8 of SMN1 and SMN2 are assessed. Copy number gains and losses can be detected with this assay. Depending on ethnicity, 6 – 29 % of carriers will not be identified by dosage sensitive methods as this testing cannot detect individuals with two copies (duplication) of the SMN1 gene on one chromosome and loss of SMN1 (deletion) on the other chromosome (silent 2+0 carrier) or individuals that carry an intragenic mutation in SMN1. Please also note that 2% of  individuals with SMA have an SMN1 mutation that occurred de novo. Typically, in these cases, only one parent is an SMA carrier. Analysis of SMN1 is performed in association with sequencing of the coding regions.

 

*Duchenne Muscular Dystrophy (DMD) testing is done by Multiplex Ligation-Dependent Probe Amplification (MLPA) to analyze the copy numbers of all DMD exons. Potentially pathogenic single exon deletions and duplications are confirmed by a second method. Analysis of DMD is performed in association with sequencing of the coding regions.

 

*Please note: these test methods are optional and can be included as part of the Carrier Screening as an add-on at an additional cost.

 

Test Method:

WES will be performed on the patient and their family members to target the exonic regions of their genomes. These regions will be sequenced using the Illumina NovaSeq 6000 with 100-150 bp paired-end reads. The DNA sequence will then be mapped to, and analyzed in comparison with, the published human genome build (UCSC hg19 reference sequence). The targeted coding exons and splice junctions of the known protein-coding RefSeq genes will be assessed for the average depth of coverage (minimum average coverage of 80X for WES and 15X-30X for WGS) and data quality threshold values. Sequence changes in the patient will be compared to the other provided family members. All reportable sequence variants will be confirmed by Sanger sequence analysis using a separate DNA preparation. Average quality thresholds may range from >90-95% of the targeted region, indicating a small portion of the target region may not be covered with sufficient depth or quality to confidently call variant positions. In addition to Next Generation Sequencing (NGS) for capturing the whole exome, Multiplex ligation-dependent probe amplification (MLPA) is done using MLPA® probe sets and reagents from MRC-Holland, Netherlands to examine SMA (kit #P460) and DMD (kit# P034-100 and P035-10). Analytical sensitivity and specificity of the MLPA method are both 99%. To examine carrier status of Fragile X syndrome, CGG repeat size was assessed using AmplideX FMR1 (kit#49402 Asuragen, Austin, TX) according to manufacturer instructions. All results are reported in reference to Human Genome 19, Human Build 37. The sequencing, alignment, and variant calling of the NGS data, as well as the Fragile X, SMA and DMD analysis, will be performed at the Gene by Gene, Ltd. laboratory located in 1445 North Loop West, Suite 760 Houston, TX 77008. Analysis, interpretation, and report will be performed by TOVANA HEALTH located at 945 McKinney St. Suite# 11977 Houston, TX 77002.

 

Limitations:

Variants in genes associated with severe or debilitating conditions that merit to be screened for in pre-conception testing are included in this report (Table 1). Absence of a causative variant(s) by WES does not exclude a genetic basis of the individual’s condition. Some types of genetic abnormalities, such as copy number changes, trinucleotide repeat expansions, small insertion/deletions and X-linked recessive mutations which manifest in females due to skewed X-inactivation may not be detectable with the technologies utilized for this testing. This test does not analyze mitochondrial DNA sequence or epigenetic changes of the genome. It is possible that the genomic region where a disease-causing mutation exists in the proband was not captured or accurately mapped to the reference sequence using the current technologies and therefore was not detected. Additionally, it is possible that a particular genetic abnormality may not be recognized a cause of a genetic disorder screened for due to incomplete scientific knowledge about the function of all genes in the human genome and the impact of variations in those genes. For diseases assessed using the MLPA testing method, false positive or negative results may occur due to rare sequence variants in target regions detected by MLPA probes. This report has been evaluated and accredited by the College of American Pathologists (CAP).

 

 

 

 

 

 

 

 

Table 1 – List of 356 genes screened/analyzed and associated conditions

 

List of Genes
OPA3, PHGDH, MTTP, CNGA3, ACADS, EOGT, CYP11B1, TBX19, ABCD1, SAMHD1, TYR, COL4A5, ASL, SLC35A3, WISP3, ASNS, AGA, ATM, AIRE, BBS1, BBS10, TRIM32, BBS2, BEST1, ARL6, BBS4, CLCNKB, BSND, HBB, BTD, BLM, ZNF469, ASPA, CPS1, SDHA, SLC25A20, CPT1A, CPT2, SNAP29, CYP27A1, VPS13A, CYBA, NCF1, CYBB, ERCC8, CFH, PLAA, CYP11A1, MPL, NGLY1, PMM2, DOLK, FRMD4A, CFTR, CTNS, CDH23, STRC, GJB2, GJB6, OTOA, MYO15A, PJVK, TMC1, SYNE4, LOXHD1, TMPRSS3, DHCR24, AQP2, BMPER, DLD, DMD, ELP1, CDAN1, SEC23B, TERT, RTEL1, ADAMTS2, NR2E3, LAMA3, LAMB3, LAMC2, ITGB4, PRICKLE1, LMAN1, F7, F11, LDLR, MEFV, FANCA, FANCC, SLC2A2, RDH5, GALT, GBA, ITGA2B, ITGB3, CYP1B1, ETFDH, GCDH, AMT, GLDC, G6PC, SLC37A4, GAA, AGL, GBE1, PYGM, PFKM, NBEAL2, GH1, GHRHR, FTO, CTSC, HBA2, CD59, TECPR2, HPS3, HPS6, HMGCL, MTHFR, ABCC8, AGXT, HOGA1, SARS2, CYP11B2, TRPM6, TBCE, ALPL, SLC34A3, TSHR, GNE, PLA2G6, SCN9A, NTRK1, IVD, TMEM216, ROGDI, GALC, GHR, GUCY2D, RPE65, AIPL1, LCA5, SURF1, ERBB3, PIP5K1C, MYBPC1, AIMP1, HSPD1, TRMU, LMNA, BCKDHA, BCKDHB, DBT, GUCY2C, ACADM, MLC1, AMN, CC2D1A, ARSA, CEP152, MED17, RYR1, NDUFA11, NDUFAF5, NDUFS4, NDUFS6, UQCRQ, TK2, DGUOK, SUCLA2, PUS1, MOCS1, GNPTG, MCOLN1, SGSH, IDUA, PIGN, SUMF1, DYSF, SGCG, FKTN, FKRP, RAPSN, TYMP, NEB, INVS, NPHS1, NPHS2, IGHMBP2, G6PC3, SMPD1, NPC1, RAG2, TCIRG1, SNX10, COL11A2, SLC26A4, PEX1, PEX6, PEX2, PAH, PKHD1, ADGRG1, VRK1, SEPSECS, VPS53, RSPH9, DNAL1, DNAH5, DNAI1, DNAI2, PEPD, PCCA, MYH2, BCHE, CTSK, PNPO, TULP1, EYS, CERKL, FAM161A, PRCD, PDE6G, DHDDS, C8orf37, CRB1, VDR, HEXB, ADA, RAG1, POC1A, SLC17A5, DHCR7, VPS37A, DDR2, ABCA4, NUP62, LIFR, ABCA3, HEXA, SLC19A2, GALNT3, SAMD9, FAH, HPD, MYO7A, USH1C, PCDH15, USH2A, CLRN1, CASQ2, ACADVL, ATP7B, WAS, LIPA, DCAF17, XPC, ERCC5, POLH, FMR1, SMN1, GDF5, NBN, B3GALT6, WNT7A, EZH2, SLC26A3, CYP21A2, TRIM36, INPP5E, LYST, ASS1, NKX2-5, NKX2-6, GATA6, GDF1, TBX1, FCGR2A, TGFB1, SLC3A1, PLOD1, FBP1, GLB1, CBS, CCDC88C, HPSE2, GCSH, ALDH4A1, TTC7A, MGP, STAT5B, PNPLA6, CLDN16, SIL1, MKS1, MMP13, TUBGCP6, OCLN, BUB1B, CA2, LRP5, AMHR2, AMH, UROS, CYP27B1, CHRNG, LPIN1, ROR2, CDSN, GM2A, SPART, TAT, XDH, BTK, GCM2, PQBP1, MRSD, AR, STAR, ECM1, BBS5, STAT5B, PCNT, ALS2, B4GALNT1, FECH, PDHB, PPT1, CTH, SLC7A9, FUCA1, ETFA, ETFB, PCCB, ANTXR2, AASS, PRODH, MAN2B1, GNPTAB, ARSB, NEU1, MMADHC, IDS, FMO3, ETHE1, MLYCD, HADHA, CCDC28B, MCPH1, ATP6V0A2, ATP6V1B1, RARS2, OAT, VSX2, TOR1A

 

 

Conditions Include
17-beta-hydroxysteroid dehydrogenase deficiency, type III

3-beta-hydroxysteroid dehydrogenase deficiency, type II

3-hydroxy-3-methylglutaryl-CoA lyase deficiency

3-Methylcrotonyl-CoA carboxylase 1 deficiency

3-Methylcrotonyl-CoA carboxylase 2 deficiency

3-phosphoglycerate dehydrogenase deficiency

6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency

Abetalipoproteinemia

Achalasia-addisonianism-alacrima syndrome

Achromatopsia

Achromatopsia, CNGA3-related

Achromatopsia, CNGB3-related

Acrodermatitis enteropathica

Acute infantile liver failure

Acyl-CoA dehydrogenase 9 deficiency

Acyl-CoA oxidase 1 deficiency

Adrenoleukodystrophy

Adrenoleukodystrophy, X-linked

Aicardi-Goutières syndrome

Aicardi-Goutières syndrome, RNASEH2C-related

Aicardi-Goutières syndrome, SAMHD1-related

Aicardi-Goutières syndrome, TREX1-related

Alkaptonuria

Alpha-1 antitrypsin deficiency (AAT deficiency)

Alpha-Mannosidosis

Alpha-thalassemia

Alport syndrome, COL4A4-related

Alport syndrome, autosomal recessive

Alport syndrome, X-linked

Alstrom syndrome

Amish infantile epilepsy syndrome

Andermann syndrome/Hereditary motor and sensory neuropathy with agenesis of the corpus callosum

Argininosuccinic Aciduria, also known as Argininosuccinic acid lyase deficiency

Aromatase deficiency

Arthrogryposis, mental retardation and seizures

Arts syndrome

Asparagine synthetase deficiency

Aspartylglycosaminuria

Ataxia neuropathy spectrum

Ataxia with vitamin E deficiency

Ataxia-Telangiectasia

Ataxia-telangiectasia-like disorder

Autism spectrum, disorder, epilepsy and arthrogryposis

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)

Autoimmune polyglandular syndrome, type 1

Bardet-Biedl syndrome

Bardet-Biedl syndrome, BBS1-related

Bardet-Biedl syndrome, BBS12-related

Bare lymphocyte syndrome, type II

Bartter syndrome, type 4

Bartter syndrome, type 4A

Becker muscular dystrophy (single nucleotide variants and small deletions/duplications)

Bernard-Soulier syndrome (BSS), type A1

Bernard-Soulier syndrome (BSS), type C

Beta hemoglobinopathy, beta thalassemia

Beta hemoglobinopathy, sickle cell disease

Beta-ketothiolase deficiency

Bilateral frontoparietal polymicrogyria

Biotinidase deficiency

Bloom syndrome

Canavan disease

Carbamoyl phosphate synthetase I deficiency

Carnitine deficiency

Carnitine palmitoyltransferase I deficiency

Carnitine palmitoyltransferase IA deficiency

Carnitine palmitoyltransferase II deficiency

Carpenter syndrome

Cartilage-hair hypoplasia

Cerebrotendinous xanthomatosis

Charcot-Marie-Tooth disease, GJB1-related

Charcot-Marie-Tooth disease, PRPS1-related

Charcot-Marie-Tooth disease, type 4D

Chediak-Higashi syndrome

Cholesteryl ester storage disease

Choreoacanthocytosis

Choroideremia

Chronic granulomatous disease, cytochrome b-negative

Chronic granulomatous disease, X-Linked

Ciliary dyskinesia, primary, with or without situs inversus

Citrin deficiency

Citrullinemia, type 1

Cobalamin C disease (Methylmalonic aciduria and homocystinuria, type cblC)

Cohen syndrome

Combined malonic and methylmalonic aciduria

Combined oxidative phosphorylation deficiency 3 (COXPD3)

Combined oxidative phosphorylation deficiency 4

Complex I mitochondrial respiratory chain deficiency

Congenital adrenal hyperplasia

Congenital adrenal hyperplasia, 17-a-hydroxylase deficiency

Congenital adrenal hyperplasia, 21-hydroxylase deficiency

Congenital amegakaryocytic thrombocytopenia

Congenital disorder of glycosylation, type 1A

Congenital disorder of glycosylation, type 1A, PMM2-related

Congenital disorder of glycosylation, type 1B

Congenital disorder of glycosylation, type 1C

Congenital Finnish nephrosis (Nephrotic syndrome, NPHS1-related)

Congenital insensitivity to pain with anhidrosis (CIPA)

Congenital lipoid adrenal hyperplasia

Congenital myasthenic syndrome, CHRNE-associated

Congenital myasthenic syndrome, RAPSN-associated

Congenital neutropenia, autosomal recessive

Corneal dystrophy and perceptive deafness syndrome

Corticosterone methyloxidase deficiency

Costeff disease optic atrophy (3-Methyl glutaconic aciduria, type 3)

CRB1-associated retinal dystrophies

Creatine transporter defect, SLC6A8-related

Creatine transporter defect (Cerebral creatine deficiency syndrome 1)

Crigler-Najjar syndrome

Cystic fibrosis

Cystinosis

D-Bifunctional protein deficiency

Deafness, autosomal recessive 77

Desbuquois dysplasia, type 1

Diabetes, type 1, juvenile

Dihydrolipoamide dehydrogenase deficiency (Maple syrup urine disease, type III)

Du Pan syndrome

Duchenne muscular dystrophy (single nucleotide variants and small deletions/duplications)

Dyskeratosis congenita, autosomal recessive

Dyskeratosis congenita, X-linked

Dystrophic epidermolysis bullosa, autosomal recessive

Early onset myopathy with fatal cardiomyopathy

Ehlers-Danlos syndrome dermatosparaxis type (formerly VIIC)

Ellis-van Creveld syndrome

Emery-Dreifuss muscular dystrophy

Emery-Dreifuss myopathy, X-Linked

Enhanced S-Cone syndrome (Goldmann-Favre syndrome)

Ethylmalonic encephalopathy

Fabry disease

Factor IX deficiency

Factor V Leiden thrombophilia

Factor XI deficiency

Familial dysautonomia

Familial hypercholesterolemia, LDLR-associated

Familial hypercholesterolemia, LDLRAP1-associated

Familial hyperinsulinism, ABCC8-related

Familial hyperinsulinism, KCNJ11-related

Familial Mediterranean Fever (FMF)

Familial neurohypophyseal diabetes insipidus (FNDI), autosomal recessive

Fanconi anemia, type A

Fanconi anemia, type C

Fanconi anemia, type G

Fetal akinesia deformation sequence, DOK7-related

Fragile X syndrome (single nucleotide variants and small deletions/duplications)

Fumarase deficiency

Galactokinase deficiency/Galactosemia, type II

Galactosemia

Galactosemia, GALT-related

Gaucher disease

Gaucher disease, atypical due to Saposin C deficiency

Geroderma osteodysplastica

Gitelman syndrome

Glucose-6-phosphate dehydrogenase deficiency (G6PD)

Glutaric acidemia, type I (Glutaryl-CoA dehydrogenase deficiency)

Glutaric acidemia, type IIa

Glutaric acidemia, type IIb

Glutaric acidemia, type IIc

Glutathione synthetase deficiency

Glycine encephalopathy

Glycine encephalopathy, AMT-related

Glycine encephalopathy, GLDC-related

Glycogen storage disease, type Ia

Glycogen storage disease, type Ib

Glycogen storage disease, type II (Pompe disease)

Glycogen storage disease, type III or Cori disease (includes type IIIa and type IIIb)

Glycogen storage disease, type V (McArdle’s disease)

Glycogen storage disease, type IV

Glycogen storage disease, type VII

GM1 gangliosidosis

GRACILE Syndrome

Guanidinoacetate methyltransferase deficiency

Hb beta chain-related hemoglobinopathy

Hemochromatosis, type 2A, HFE2-related

Hemoglobinopathy, Hb C

Hemoglobinopathy, Hb D

Hemoglobinopathy, Hb E

Hemoglobinopathy, Hb O

Hemophilia A

Hemophilia B

Hepatocerebral mitochondrial DNA depletion syndrome, MPV17-related

Hereditary fructose intolerance

Hereditary spastic paraparesis, type 49 (SPG49)

Herlitz junctional epidermolysis bullosa, Herlitz type, non-Herlitz type

Herlitz junctional epidermolysis bullosa, LAMB3-related

Herlitz junctional epidermolysis bullosa, LAMC2-related

Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome, HPS3-related

Hermansky-Pudlak syndrome, type III

HFE-associated hereditary hemochromatosis

Holocarboxylase synthetase deficiency

Homocystinuria

Homocystinuria caused by cystathionine beta-synthase deficiency

Homocystinuria, CBS-related

Homocystinuria due to deficiency of N (5,10)-methylenetetrahydrofolate reductase activity

Hydrolethalus syndrome

Hyperinsulinemic hypoglycemia

Hyperoxaluria, type 2 (Primary hyperoxaluria, type 2)

Hyperphosphatemic familial tumoral calcinosis

Hypogonadotropic hypogonadism

Hypohidrotic ectodermal dysplasia

Hypohidrotic ectodermal dysplasia, X-Linked

Hypophosphatasia, autosomal recessive

Inclusion body myopathy 2 (GNE-Myopathy)

Infantile cerebral and cerebellar atrophy

Infantile Refsum disease

Isovaleric acidemia

Joubert syndrome 2

Juvenile retinoschisis, X-linked

Krabbe disease

Krabbe disease, atypical due to Saposin A deficiency

Lamellar ichthyosis, type 1

Leber congenital amaurosis (LCA)

Leber congenital amaurosis, LCA5-related

Leber congenital amaurosis, RDH12-related

Leber congenital amaurosis 2

Leber congenital amaurosis 10, CEP290-related

Leigh Syndrome, French-Canadian type

Lethal arthrogryposis with anterior horn cell disease

Lethal congenital contracture syndrome 1 (Multiple contracture syndrome, Finnish type)

Leukoencephalopathy with vanishing white matter

Limb-girdle muscular dystrophy, type 2A

Limb-girdle muscular dystrophy, type 2B

Limb-girdle muscular dystrophy, type 2C

Limb-girdle muscular dystrophy, type 2D

Limb-girdle muscular dystrophy, type 2E

Limb-girdle muscular dystrophy, type 2I

Lipoid adrenal hyperplasia

Lipoprotein lipase deficiency

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Luteinizing hormone resistance

Lysinuric protein intolerance

Maple syrup urine disease, type 1A

Maple syrup urine disease, type 1B

Meckel-Gruber syndrome

Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)

MEDNIK syndrome

Megalencephalic leukoencephalopathy with subcortical cysts

Menkes syndrome

Metachromatic leukodystrophy

Metachromatic leukodystrophy due to Saposin B deficiency

Methylmalonic acidemia, MMAA-related

Methylmalonic acidemia, MMAB-related

Methylmalonic aciduria

Methylmalonic aciduria and homocystinuria, cblD type

Methylmalonic aciduria, cblA type

Methylmalonic aciduria, cblB type

Methylmalonic aciduria, mut (0) type

Methylmalonic aciduria, MUT-related

Microphthalmia/anophthalmia

Mitochondrial complex I deficiency

Mitochondrial complex III deficiency

Mitochondrial complex IV deficiency

Mitochondrial myopathy and sideroblastic anemia (MLAS1)

Mitochondrial neurogastrointestinal encephalopathy (MNGIE)

Motor neuropathy, distal hereditary

MTHFR deficiency

Mucolipidosis II alpha/beta

Mucolipidosis III alpha/beta

Mucolipidosis III gamma

Mucolipidosis IV

Mucopolysaccharidosis, type I (Hurler syndrome)

Mucopolysaccharidosis, type II (Hunter syndrome)

Mucopolysaccharidosis, type IIIA (Sanfilippo A)

Mucopolysaccharidosis, type IIIB (Sanfilippo B)

Mucopolysaccharidosis, type IIIC (Sanfilippo C)

Mucopolysaccharidosis, type IIID

Mucopolysaccharidosis, type IVB (Morquio)

Mucopolysaccharidosis, type VI (Maroteaux-Lamy)

Mucopolysaccharidosis, type IX

Mulibrey nanism

Multiple sulfatase deficiency

Muscle-eye-brain disease

Muscle-Eye-Brain Disease, POMGNT1-related/Muscular dystrophy-dystroglycanopathy (limb- girdle), type C3

Myotubular myopathy, MTM1-related

Myotubular myopathy, X-Linked

N-acetylglutamate synthase deficiency

Navajo neurohepatopathy (NNH)

Nemaline myopathy

Nemaline myopathy II

Nemaline myopathy, NEB-related

Nephrotic syndrome, type I

Neuronal ceroid lipofuscinosis, CLN5-related (including Finnish variant)

Neuronal ceroid lipofuscinosis, PPT1-related

Neuronal ceroid lipofuscinosis, TPP1-related

Neuronal ceroid-lipofuscinosis, CLN6-related

Neuronal ceroid-lipofuscinosis, CLN8-related (Northern epilepsy variant)

Neuronal ceroid-lipofuscinosis, MFSD8-related

Neuronal ceroid-lipofuscinosis, CLN3-related (Batten disease)

Niemann-Pick disease, type A

Niemann-Pick disease, type B

Niemann-Pick disease, type C

Niemann-Pick disease, type C, NPC1-related

Niemann-Pick disease, type C, NPC2-related

Niemann-Pick disease, type C1/type D

Niemann-Pick disease, type C2

Niemann-Pick disease, SMPD1-associated

Nijmegen Breakage syndrome

Non-syndromic deafness

Nonsyndromic hearing loss, GJB2-related

Occipital horn syndrome

Odonto-onycho-dermal dysplasia

Omenn syndrome (Reticuloendotheliosis with eosinophilia)

Ornithine aminotransferase deficiency (Gyrate atrophy of choroid and retina with or without ornithinemia)

Ornithine transcarbamylase deficiency

Ornithine translocase deficiency (Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome or HHH syndrome)

Osteopetrosis, infantile malignant/Osteopetrosis, autosomal recessive

Osteoporosis and hyperlipidaemia

Pendred syndrome

Peroxisome biogenesis disorders

Phenylalanine hydroxylase deficiency, includes phenylketonuria

Phenylketonuria

Pituitary hormone deficiency

Polycystic kidney disease, autosomal recessive

Pontocerebellar hypoplasia

Pontocerebellar hypoplasia, type 1A

Primary ciliary dyskinesia, DNAH5-associated

Primary ciliary dyskinesia, DNAI1-associated

Primary congenital glaucoma

Primary hyperoxaluria, type 1

Primary hyperoxaluria, type 3

Progressive cerebello-cerebral atrophy

Progressive familial intrahepatic cholestasis, type 2

Prolidase deficiency

PROP1-related combined pituitary hormone deficiency

PROP1-related combined pituitary hormone deficiency, 3

Propionic acidemia, alpha subunit

Propionic acidemia, beta subunit

Propionic acidemia, PCCA-related

Propionic acidemia, PCCB-related

Prothrombin thrombophilia

PRPS1-related Charcot-Marie-Tooth disease with deafness, X-Linked

Pseudocholinesterase deficiency

Pseudoxanthoma elasticum

Pycnodysostosis

Pyruvate dehydrogenase deficiency, autosomal recessive

Pyruvate dehydrogenase deficiency, X-Linked

Renal tubular acidosis and deafness

Retinal degeneration in ciliopathies, association with Joubert syndrome

Retinitis pigmentosa 20

Retinitis pigmentosa 25

Retinitis pigmentosa 26

Retinitis pigmentosa 28

Retinitis pigmentosa 59

Retinitis pigmentosa, modifier of

Rhizomelic chondrodysplasia punctata

Rhizomelic chondrodysplasia punctata, type 3 Alkyl-DHAP synthase deficiency

Riboflavin-responsive complex I deficiency

Roberts syndrome

Salla disease

Sandhoff disease

Schimke immuno osseous dysplasia

Schopf-Schulz-Passarge syndrome

Segawa syndrome

Severe combined immunodeficiency (SCID), autosomal recessive due to adenosine deaminase deficiency

Severe combined immunodeficiency, Athabaskan-type (SCIDA)

Severe combined immunodeficiency, RAG1-related

Severe combined immunodeficiency, X-linked

Short stature, combined pituitary hormone deficiency and suprasellar mass

Short-chain acyl-CoA dehydrogenase deficiency (SCAD)

Shwachman-Diamond syndrome

Sjögren-Larsson syndrome

Smith-Lemli-Opitz syndrome

Spastic ataxia of Charlevoix-Saguenay, autosomal recessive

Spinal muscular atrophy (single nucleotide variants and small deletions/duplications)

Spondylothoracic dysostosis (STD)

Steal syndrome

Steroid-resistant nephrotic syndrome

Stuve-Wiedemann syndrome

Sulfate transporter-related osteochondrodysplasia (includes Achondrogenesis type 1B, Atelosteogenesis type 2, Diastrophic dysplasia, and Recessive multiple epiphyseal dysplasia)

Tay-Sachs disease (hexosaminidase A deficiency)

Tumoral calcinosis, normophosphatemic

Tyrosinemia, type I

Usher syndrome, type 1B

Usher syndrome, type 1C

Usher syndrome, type 1D

Usher syndrome type 1F

Usher syndrome, type 2A

Usher syndrome, type 3

Very-long chain acyl-CoA dehydrogenase deficiency (VLCAD)

Vitamin D-dependent rickets, type I

Walker-Warburg syndrome

Walker-Warburg syndrome, FKTN-related

Weyers acrofacial dysostosis

Wilson Disease

Wolman disease

Zellweger syndrome spectrum, PEX1-related

Zellweger syndrome spectrum, PEX6-related

Zellweger spectrum disorders, PEX10-related

 

 

Ordering:

CATALOG NUMBER: 1100104, 1197204, 1100004
TURNAROUND TIME: 2-5 weeks
PREFERRED SPECIMEN: Buccal swab
ALTERNATIVE SPECIMEN:  

Extracted DNA: 20ul of 50ng/ul, OD260/OD280 ~ 1.8, include details of extraction method with samples

 

Blood: 3-5cc drawn in EDTA (purple-top) tube