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Dépistage génétique de routine (au moins 3 maladies)

Counsyl Fundamental Panel Plus (au moins 21 maladies)

Counsyl Universal Panel moins les maladies liées au X (au moins 102 maladies)

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Taille (en pieds et pouces) :

5'04"

6'10"

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A subi des tests génétiques et obtenu des résultats négatifs pour :

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11-beta-hydroxylase-deficient Congenital Adrenal Hyperplasia

17-beta Hydroxysteroid Dehydrogenase 3 Deficiency (HSD17B3)

2-methylbutyrylglycinuria

21-hydroxylase Deficient Congenital Adrenal Hyperplasia

3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency

3-Methylcrotonyl-CoA Carboxylase Deficiency (MCCC1-Related)

3-Methylcrotonyl-CoA Carboxylase Deficiency (MCCC2-Related)

3-Phosphoglycerate Dehydrogenase Deficiency (PHGDH)

6-pyruvoyl-tetrahydropterin Synthase Deficiency

ABCA4-related Conditions

ABCC8-related Hyperinsulinism

ADGRV1-related Conditions (ADGRV1)

AHI1-related Conditions (AHI1)

AMT-related Glycine Encephalopathy

ARSACS

ATP7A-related Disorders

Abetalipoproteinemia (MTTP)

Achalasia-addisonianism-alacrimia Syndrome

Achromatopsia

Achromatopsia 2

Acrodermatitis Enteropathica

Acute Infantile Liver Failure

Acyl-CoA Oxidase I Deficiency

Adams-Oliver Syndrome 4

Adenosine Deaminase Deficiency

Adrenocorticotropic Hormone Deficiency

Agammaglobulinemia (X-linked)

Agenesis Of The Corpus Callosum

Aicardi-Gouti?res Syndrome (SAMHD1-Related)

Aicardi-Goutieres Syndrome (RNASEH2C-related)

Aicardi-Goutieres Syndrome 1 (and Other TREX1-related Retinal Dystroph

Aicardi-Goutieres Syndrome 2

Aicardi-Goutieres Syndrome 4

Alkaptonuria

Alpha Thalassemia

Alpha-1 Antitrypsin Deficiency

Alpha-Mannosidosis

Alpha-N-acetylgalactosaminidase Deficiency (NAGA)

Alpha-Thalassemia Mental Retardation Syndrome

Alpha-mannosidosis

Alstrom Syndrome

Andermann Syndrome

Angelman Syndrome

Anterior Segment Dysgenesis (CYP1B1-related) / Glaucoma (CYP1B1-relate

Antley-Bixler Syndrome (POR-related)

Argininemia

Argininosuccinic Aciduria

Aromatase Deficiency

Arthrogryposis, Mental Retardation, And Seizures (SLC35A3)

Asparagine Synthetase Deficiency

Aspartylglycosaminuria

Ataxia With Vitamin E Deficiency

Ataxia-Telangiectasia-Like Disorder (MRE11)

Ataxia-telangiectasia

Atransferrinemia (TF)

Autosomal Recessive Infantile Epileptic Encephalopathy

Autosomal Recessive Osteopetrosis Type 1

Autosomal Recessive Polycystic Kidney Disease

Autosomal Recessive Primary Microcephaly 8

BBS5-related Conditions (BBS5)

BH4-deficient Hyperphenylalaninemia C

BH4-deficient Hyperphenylalaninemia D

BRIP1-related Conditions (BRIP1)

Bardet-Biedl Syndrome (ARL6-related)

Bardet-Biedl Syndrome (BBS4-related)

Bardet-Biedl Syndrome (BBS7)

Bardet-Biedl Syndrome (BBS9)

Bardet-Biedl Syndrome (TRIM32-related)

Bardet-Biedl Syndrome, BBS1-related

Bardet-Biedl Syndrome, BBS10-related

Bardet-Biedl Syndrome, BBS12-related

Bardet-Biedl Syndrome, BBS2-related

Bare Lymphocyte Syndrome, Type II

Barth Syndrome

Bartter Syndrome Type 1 (SLC12A1)

Bartter Syndrome Type 2 (KCNJ1)

Bartter Syndrome, Type 3

Bartter Syndrome, Type 4A

Bernard-Soulier Syndrome, Type A1

Bernard-Soulier Syndrome, Type C

Beta-Ketothiolase Deficiency

Beta-Thalassemia

Beta-mannosidosis

Bilateral Frontoparietal Polymicrogyria

Biotin-responsive Basal Ganglia Disease (SLC19A3)

Biotinidase Deficiency

Bloom Syndrome

Brittle Cornea Syndrome (PRDM5-related)

Brittle Cornea Syndrome (ZNF469)

CC2D2A-related Conditions (CC2D2A)

CD59-mediated Hemolytic Anemia

CLN3-related Neuronal Ceroid Lipofuscinosis

CLN5-related Neuronal Ceroid Lipofuscinosis

CLN6-related Neuronal Ceroid Lipofuscinosis

CLN8-related Neuronal Ceroid Lipofuscinosis

COL4A3-related Alport Syndrome

COL4A4-related Alport Syndrome

CPLANE1-related Disorders

CYP7B1-related Conditions (CYP7B1)

Calpainopathy

Canavan Disease

Carbamoylphosphate Synthetase I Deficiency

Cardioencephalomyopathy (SCO2)

Carnitine Acylcarnitine Translocase Deficiency

Carnitine Palmitoyltransferase IA Deficiency

Carnitine Palmitoyltransferase II Deficiency

Carpenter Syndrome

Cartilage-hair Hypoplasia

Catecholaminergic Polymorphic Ventricular Tachycardia

Central Hypothyroidism And Testicular Enlargement

Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1 (VLDLR)

Cerebral Creatine Deficiency Syndrome 1

Cerebral Creatine Deficiency Syndrome 2

Cerebral Creatine Deficiency Syndrome 3

Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratode

Cerebrotendinous Xanthomatosis

Charcot-Marie-Tooth Disease, Type 4D

Charcot-Marie-Tooth Disease, Type 5 / Arts Syndrome

Charcot-Marie-Tooth Disease, X-Linked

Chediak-Higashi Syndrome

Childhood-onset Dystonia With Optic Atrophy And Basal Ganglia Abnormalities (MECR)

Chondrodysplasia Punctata (X-linked)

Choreoacanthocytosis

Choroideremia

Chronic Granulomatous Disease (CYBA-related)

Chronic Granulomatous Disease (CYBB-related)

Chronic Granulomatous Disease (NCF2)

Citrin Deficiency

Citrullinemia Type 1

Cobalamin C Disease

Cohen Syndrome

Combined Factor V And VIII Deficiency

Combined Immunodeficiency Due To IKBKB deficiency (IKBKB)

Combined Malonic And Methylmalonic Aciduria

Combined Oxidative Phosphorylation Deficiency 1

Combined Oxidative Phosphorylation Deficiency 3

Combined Pituitary Hormone Deficiency 1

Combined Pituitary Hormone Deficiency 3

Combined SAP Deficiency

Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency

Congenital Adrenal Insufficiency (CYP11A1-related)

Congenital Amegakaryocytic Thrombocytopenia (MPL)

Congenital Bile Acid Synthesis Defect (AKR1D1-Related)

Congenital Bile Acid Synthesis Defect (HSD3B7-Related)

Congenital Chronic Diarrhea (DGAT1)

Congenital Disorder Of Deglycosylation

Congenital Disorder Of Glycosylation Type Ia

Congenital Disorder Of Glycosylation Type Ib

Congenital Disorder Of Glycosylation Type Ic

Congenital Disorder Of Glycosylation Type Ik (ALG1)

Congenital Disorder Of Glycosylation, Type Im

Congenital Dyserythropoietic Anemia Type 2

Congenital Dyserythropoietic Anemia, Type Ia

Congenital Finnish Nephrosis

Congenital Hydrocephalus-1 (CCDC88C)

Congenital Ichthyosis 4A And 4B

Congenital Insensitivity To Pain With Anhidrosis

Congenital Myasthenic Syndrome (CHAT-related)

Congenital Myasthenic Syndrome (CHRNE-Related)

Congenital Myasthenic Syndrome (DOK7-related)

Congenital Myasthenic Syndrome (RAPSN-Related)

Congenital Neutropenia (HAX1-Related)

Congenital Neutropenia (VPS45-Related)

Congenital Nongoitrous Hypothryoidism 1 / Nonautoimmune Hyperthyroidis

Congenital Nongoitrous Hypothryoidism 4

Congenital Secretory Chloride Diarrhea 1

Corneal Dystrophy And Perceptive Deafness

Corticosterone Methyloxidase Deficiency

Costeff Optic Atrophy Syndrome

Cystic Fibrosis

Cystinosis

Cystinuria (SLC3A1-related)

Cytochrome C Oxidase Deficiency / Leigh Syndrome (COX15-related)

D-bifunctional Protein Deficiency

DYNC2H1-related Conditions (DYNC2H1)

Deafness, Autosomal Recessive 3

Deafness, Autosomal Recessive 59

Deafness, Autosomal Recessive 7 / Deafness, Autosomal Dominant 36

Deafness, Autosomal Recessive 76

Deafness, Autosomal Recessive 77

Deafness, Autosomal Recessive 8

Deafness, Autosomal Recessive 9 / Auditory Neuropathy

Delta-sarcoglycanopathy

Desbuquois Dysplasia 1

Desmosterolosis

Developmental And Epileptic Encephalopathy (CAD)

Diaphanospondylodysostosis

Dihydrolipoamide Dehydrogenase Deficiency

Dihydropyrimidine Dehydrogenase Deficiency

Distal Renal Tubular Acidosis / Spherocytosis, Type 4

Donnai-Barrow Syndrome (LRP2)

Dubin-Johnson Syndrome (ABCC2)

Dysferlinopathy

Dyskeratosis Congenita (X-linked)

Dyskeratosis Congenita Spectrum Disorders (TERT)

Dystrophic Epidermolysis Bullosa

Dystrophinopathy (including Duchenne/Becker Muscular Dystrophy)

ERCC6-related Disorders

ERCC8-related Disorders

EVC-related Ellis-van Creveld Syndrome

EVC2-related Ellis-van Creveld Syndrome

Ehlers-Danlos Syndrome (TNXB-related)

Ehlers-Danlos Syndrome, Type VI

Ehlers-Danlos Syndrome, Type VIIC

Emery-Dreifuss Myopathy 1

Enhanced S-Cone Syndrome

Ethylmalonic Encephalopathy

FKRP-related Disorders

FTCD-related Disorders

Fabry Disease

Factor IX Deficiency

Factor V Leiden Thrombophilia

Factor VII Deficiency

Factor XI Deficiency

Familial Autosomal Recessive Hypercholesterolemia

Familial Dysautonomia

Familial Dysautonomia (ELP1)

Familial Hemophagocytic Lymphohistiocytosis Type 2 (PRF1)

Familial Hemophagocytic Lymphohistiocytosis Type 3 (UNC13D)

Familial Hemophagocytic Lymphohistiocytosis Type 4 (STX11)

Familial Hemophagocytic Lymphohistiocytosis Type 5 (STXBP2)

Familial Hypercholesterolemia (LDLR-related)

Familial Hyperinsulinemic Hypoglycemia 4 / 3-Hydroxyacyl-CoA Dehydroge

Familial Hyperphosphatemic Tumoral Calcinosis

Familial Mediterranean Fever

Fanconi Anemia Complementation Group A

Fanconi Anemia Type C

Fanconi Anemia Type D2 (FANCD2)

Fanconi Anemia Type E (FANCE)

Fanconi Anemia Type I (FANCI)

Fanconi Anemia Type L (FANCL)

Fanconi Anemia, Group G

Fanconi-Bickel Syndrome

Foveal Hypoplasia (SLC38A8)

Fragile X Syndrome

Fraser Syndrome (FRAS1)

Fraser Syndrome (FREM2)

Fraser Syndrome (GRIP1)

Friedreich Ataxia

Fructose-1,6-Bisphosphatase Deficiency

Fucosidosis

Fundus Albipunctatus (RDH5-related)

GCH1-related Conditions (GCH1)

GDF5-related Conditions (GDF5)

GJB2-related DFNB1 Nonsyndromic Hearing Loss And Deafness

GJB6-CRYL1 Related Nonsyndromic Hearing Loss

GJB6-CRYL1 Related Nonsyndromic Hearing Loss UK

GLB1-related Disorders

GLDC-related Glycine Encephalopathy

GNPTAB-related Disorders

GRACILE Syndrome

Galactokinase Deficiency

Galactose Epimerase Deficiency

Galactosemia

Galactosialidosis

Gamma-sarcoglycanopathy

Gaucher Disease

Geme Oxygenase 1 Deficiency (HMOX1)

Generalized Thyrotropin-Releasing Hormone Resistance

Gereditary Hemochromatosis Type 2 (HAMP)

Gereditary Hemochromatosis Type 2 (HJV)

Geroderma Osteodysplasticum

Gitelman Syndrome

Glanzmann Thrombasthenia (ITGA2B-related)

Glanzmann Thrombasthenia (ITGB3-related)

Glucose Transporter Type 1 Deficiency Syndrome

Glucose-6-phosphate Dehydrogenase Deficiency

Glutaric Acidemia Type 1

Glutaric Acidemia, Type IIa

Glutaric Acidemia, Type IIb

Glutaric Acidemia, Type IIc

Glutathione Synthetase Deficiency

Glycine Encephalopathy

Glycogen Storage Disease Type II

Glycogen Storage Disease Type III

Glycogen Storage Disease Type IXc (PHKG2)

Glycogen Storage Disease Type Ia

Glycogen Storage Disease Type Ib

Glycogen Storage Disease Type V

Glycogen Storage Disease, Type 0

Glycogen Storage Disease, Type IV / Adult Polyglucosan Body Disease

Glycogen Storage Disease, Type IXb

Glycogen Storage Disease, Type VI

Glycogen Storage Disease, Type VII

Gray Platelet Syndrome

Growth Hormone Deficiency, Type IB

HBA1 Copy Number

HBA2 Copy Number

HFE-Associated Hereditary Hemochromatosis

HMG-CoA Lyase Deficiency

HMG-CoA Synthase 2 Deficiency

Hawkinsinuria / Tyrosinemia, Type III

Hb Beta Chain-related Hemoglobinopathy (including Beta Thalassemia And Sickle Cell Disease)

Hemochromatosis, Type 2A

Hemochromatosis, Type 3

Hereditary Fructose Intolerance

Hereditary Leiomyomatosis And Renal Cell Cancer / Fumarase Deficiency

Hereditary Spastic Paraparesis 49

Hereditary Thymine-uraciluria

Herlitz Junctional Epidermolysis Bullosa, LAMA3-related

Herlitz Junctional Epidermolysis Bullosa, LAMB3-related

Herlitz Junctional Epidermolysis Bullosa, LAMC2-related

Hermansky-Pudlak Syndrome (HPS4-related)

Hermansky-Pudlak Syndrome (HPS6-related)

Hermansky-Pudlak Syndrome Type 5 (HPS5)

Hermansky-Pudlak Syndrome Type 8 (BLOC1S3)

Hermansky-Pudlak Syndrome Type 9 (BLOC1S6)

Hermansky-Pudlak Syndrome, Type 1

Hermansky-Pudlak Syndrome, Type 3

Hexosaminidase A Deficiency

Hexosaminidase A Deficiency (including Tay-Sachs Disease)

Holocarboxylase Synthetase Deficiency

Homocystinuria Caused By Cystathionine Beta-synthase Deficiency

Homocystinuria, CblE Type

Homocystinuria-Megaloblastic Anemia, Cobalamin G Type

Hurler Syndrome

Hydrocephalus (X-linked)

Hydrolethalus Syndrome

Hyper-IgM Immunodeficiency (CD40)

Hyper-IgM Syndrome (X-linked)

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Hyperoxaluria Type 1

Hyperoxaluria Type 2

Hyperparathyroidism/hypocalcemia/type I Hypocalciuric Hypercalcemia/ps

Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis

Hypohidrotic Ectodermal Dysplasia 1

Hypomagnesemia 1

Hypomyelinating Leukodystrophy 3

Hypoparathyroidism-retardation-dysmorphic Syndrome

Hypophosphatasia, Autosomal Recessive

Hypophosphatemic Rickets With Hypercalciuria

Hypotrichosis 8 / Autosomal Recessive Woolly Hair 1

Ichthyosis Prematurity Syndrome (SLC27A4)

Immunodeficiency 18

Immunodeficiency 19

Immunodeficiency-centromeric Instability-facial Anomalies Syndrome 1 (DNMT3B)

Immunodeficiency-centromeric Instability-facial Anomalies Syndrome 2 (ZBTB24)

Inclusion Body Myopathy 2

Infantile Cerebral And Cerebellar Atrophy

Infantile Neuroaxonal Dystrophy 1 And Other PLA2G6-related Disorders

Intrahepatic Cholestasis

Isolated Ectopia Lentis (ADAMTSL4)

Isovaleric Acidemia

Johanson-Blizzard Syndrome (UBR1)

Joubert Syndrome (ARL13B-related)

Joubert Syndrome (and Other NPHP1-related Ciliopathies)

Joubert Syndrome 2

Joubert Syndrome 7 / Meckel Syndrome 5 / COACH Syndrome

Junctional Epidermolysis Bullosa (COL17A1-related)

Junctional Epidermolysis Bullosa (ITGA6-related)

Junctional Epidermolysis Bullosa (ITGB4-related)

Junctional Epidermolysis Bullosa, LAMA3-related

Junctional Epidermolysis Bullosa, LAMB3-related

Junctional Epidermolysis Bullosa, LAMC2-related

KCNJ11-related Familial Hyperinsulinism

Karyotyping

Kel*K

Kel*k

Kohlschutter-Tonz Syndrome

Krabbe Disease

LAMA2-related Muscular Dystrophy

LIG4 syndrome (LIG4)

LRAT-related Conditions (LRAT)

LRRC6

Laron Dwarfism

Leber Congenital Amaurosis (and Other AIPL1-related Ciliopathies)

Leber Congenital Amaurosis (and Other GUCY2D-related Ciliopathies)

Leber Congenital Amaurosis (and Other TULP1-related Retinopathies)

Leber Congenital Amaurosis 10 And Other CEP290-Related Ciliopathies

Leber Congenital Amaurosis 13

Leber Congenital Amaurosis 2 / Retinitis Pigmentosa 20

Leber Congenital Amaurosis 5

Leber Congenital Amaurosis 8 / Retinitis Pigmentosa 12 / Pigmented Par

Leigh Syndrome

Leigh Syndrome (NDUFS7-related)

Leigh Syndrome (SURF1-related)

Leigh Syndrome, French-Canadian Type

Lethal Congenital Contracture Syndrome 1 / Lethal Arthrogryposis With

Lethal Congenital Contracture Syndrome 2

Lethal Congenital Contracture Syndrome 3

Leukoencephalopathy With Vanishing White Matter

Leukoencephalopathy With Vanishing White Matter (EIF2B1)

Leukoencephalopathy With Vanishing White Matter (EIF2B3)

Leukoencephalopathy With Vanishing White Matter (EIF2B4)

Limb-girdle Muscular Dystrophy Type 2D

Limb-girdle Muscular Dystrophy Type 2E

Limb-girdle Muscular Dystrophy, Type 2L

Lipoid Congenital Adrenal Hyperplasia

Lipoprotein Lipase Deficiency

Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency

Lowe Syndrome (X-linked)

Lysinuric Protein Intolerance

Lysosomal Acid Lipase Deficiency

MECKEL SYNDROME 7/ NEPHRONOPHTHISIS

MEDNIK Syndrome

MKKS-related Conditions (MKKS)

MKS1-related Disorders

MTHFR Deficiency

MUSK-related Conditions (MUSK)

MVK-related Conditions (MVK)

MYO7A-related Disorders

Malonyl-CoA Decarboxylase Deficiency

Maple Syrup Urine Disease Type 1A

Maple Syrup Urine Disease Type 1B

Maple Syrup Urine Disease Type 3

Maple Syrup Urine Disease Type II

Medium Chain Acyl-CoA Dehydrogenase Deficiency

Megalencephalic Leukoencephalopathy With Subcortical Cysts

Megaloblastic Anemia 1

Mental Retardation, Autosomal Recessive 3

Metabolic Crises With Rhabdomyolysis, Cardiac Arrhythmias And Neurodegeneration (TANGO2)

Metachromatic Leukodystrophy

Methionine Adenosyltransferase I/III Deficiency

Methylmalonic Acidemia MMAA-related

Methylmalonic Acidemia MMAB-related

Methylmalonic Acidemia MUT-related

Methylmalonic Acidemia, CblA Type

Methylmalonic Acidemia, CblB Type

Methylmalonic Aciduria And Homocystinuria Type CbIC

Methylmalonic Aciduria And Homocystinuria, CblC

Methylmalonic Aciduria And Homocystinuria, Cobalamin D Type

Methylmalonic Aciduria And Homocystinuria, Cobalamin F Type

Methylmalonyl-CoA Epimerase Deficiency

Microcephalic Osteodysplastic Primordial Dwarfism Type II (PCNT)

Microcephaly 9, Primary, AR / Seckel Syndrome 5 (CEP152-related)

Microphthalmia / Anophthalmia

Mitochondrial Complex I Deficiency (ACAD9-Related)

Mitochondrial Complex I Deficiency (NDUFA11-related)

Mitochondrial Complex I Deficiency (NDUFAF5-Related)

Mitochondrial Complex I Deficiency (NDUFS6-Related)

Mitochondrial Complex I Deficiency (NDUFV1-related)

Mitochondrial Complex I Deficiency / Leigh Syndrome (FOXRED1-related)

Mitochondrial Complex I Deficiency / Leigh Syndrome (NDUFAF2-related)

Mitochondrial Complex I Deficiency / Leigh Syndrome (NDUFS4-related)

Mitochondrial Complex IV Deficiency (COX20-related)

Mitochondrial Complex IV Deficiency (COX6B1-related)

Mitochondrial Complex IV Deficiency (APOPT1-related)

Mitochondrial Complex IV Deficiency (PET100-related)

Mitochondrial Complex IV Deficiency (SCO1-Related)

Mitochondrial Complex IV Deficiency / Leigh Syndrome (COX10-related)

Mitochondrial DNA Depletion Syndrome 2

Mitochondrial DNA Depletion Syndrome 3

Mitochondrial DNA Depletion Syndrome 4A And 4B And Other POLG-related

Mitochondrial DNA Depletion Syndrome 5

Mitochondrial DNA Depletion Syndrome 6 / Navajo Neurohepatopathy

Mitochondrial Myopathy And Sideroblastic Anemia 1

Mitochondrial Trifunctional Protein Deficiency (HADHB-Related)

Molybdenum Cofactor Deficiency (MOCS2)

Molybdenum Cofactor Deficiency A

Mucolipidosis II / IIIA

Mucolipidosis III Gamma

Mucolipidosis IV

Mucopolysaccharidosis Type I

Mucopolysaccharidosis Type II

Mucopolysaccharidosis Type IIIA

Mucopolysaccharidosis Type IIIB

Mucopolysaccharidosis Type IIIC

Mucopolysaccharidosis Type IIID

Mucopolysaccharidosis Type IVa

Mucopolysaccharidosis Type VI

Mucopolysaccharidosis VII

Mucopolysaccharidosis?type IX

Mulibrey Nanism

Multiple Congenital Anomalies-hypotonia-seizures Syndrome 1

Multiple Pterygium Syndrome

Multiple Sulfatase Deficiency (SUMF1)

Muscle-eye-brain Disease

Muscular Dystrophy-dystroglycanopathy (LARGE1)

Muscular Dystrophy-dystroglycanopathy (POMT1)

Muscular Dystrophy-dystroglycanopathy (POMT2)

Muscular Dystrophy-dystroglycanopathy (RXYLT1)

Myoneurogastrointestinal Encephalopathy

Myotonia Congenita (CLCN1)

N-Acetylglutamate Synthase Deficiency

NADSYN1-related Conditions

NEB-related Nemaline Myopathy

NOTCH1-related Disease

NSMCE3 deficiency (NSMCE3)

Nephrogenic Diabetes Insipidus (AVPR2-Related) / Nephrogenic Syndrome

Nephrogenic Diabetes Insipidus, Type II

Nephronophthisis 2

Nephrotic Syndrome (NPHS1-Related)

Nephrotic Syndrome (NPHS2-Related)

Nephrotic Syndrome, NPHS1-Related

Nephrotic Syndrome, NPHS2-Related

Neurodegeneration Due To Cerebral Folate Transport Deficiency

Neuronal Ceroid Lipofuscinosis Type 10 (CTSD)

Neuronal Ceroid Lipofuscinosis, TPP1-related

Neuronal Ceroid-Lipofuscinosis (MFSD8-Related)

Niemann-Pick Disease Type A

Niemann-Pick Disease Type B

Niemann-Pick Disease Type C

Niemann-Pick Disease Type C2

Niemann-Pick Disease, SMPD1-associated

Niemann-Pick Disease, Type C (NPC1-Related)

Nijmegen Breakage Syndrome

Non-Ketonic Hyperglycinemia, GLDC-Related

Northern Epilepsy

OSTM1 deficiency Associated Osteopetrosis (OSTM1)

OTOF-related Conditions (OTOF)

Oculocutaneous Albinism (SLC45A2-related)

Oculocutaneous Albinism (TYR-related)

Oculocutaneous Albinism (TYRP1-related)

Oculocutaneous Albinism Type 2 OCA2)

Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome

Omenn Syndrome (RAG2-Related)

Omenn Syndrome / Severe Combined Immunodeficiency, Athabaskan-Type

Omenn Syndrome And Other RAG1-related Disorders

Ornithine Aminotransferase Deficiency

Ornithine Transcarbamylase Deficiency

Osteogenesis Imperfecta (BMP1)

Osteogenesis Imperfecta (CRTAP)

Osteogenesis Imperfecta (P3H1)

Osteogenesis Imperfecta, Type XI

Osteopetrosis 8

PCCA-related Propionic Acidemia

PCCB-related Propionic Acidemia

PEX1-related Zellweger Syndrome Spectrum

PEX5-related Conditions (PEX5)

PGM3-congenital Disorder Of Glycosylation (PGM3)

PJVK-related Conditions (DFNB59 aka PJVK)

PLAA-related Neurodevelopmental Disorders

PLEKHG5-related Conditions (PLEKHG5)

PPT1-related Neuronal Ceroid Lipofuscinosis

PROP1-related Combined Pituitary Hormone Deficiency

Pantothenate Kinase-associated Neurodegeneration (PANK2)

Papillon-Lefevre Syndrome

Parkinson Disease 15 (FBXO7)

Pendred Syndrome

Peroxisome Biogenesis Disorder 7A And 7B

Peroxisome Biogenesis Disorder Type 3

Peroxisome Biogenesis Disorder Type 4

Peroxisome Biogenesis Disorder Type 5

Peroxisome Biogenesis Disorder Type 6

Phenylalanine Hydroxylase Deficiency

Polyglandular Autoimmune Syndrome Type 1

Polymicrogyria (ADGRG1)

Pompe Disease

Pontocerebellar Hypoplasia, Type 1A

Pontocerebellar Hypoplasia, Type 1B

Pontocerebellar Hypoplasia, Type 2A And Type 4

Pontocerebellar Hypoplasia, Type 2E

Pontocerebellar Hypoplasia, Type 6

Primary Carnitine Deficiency

Primary Ciliary Dyskinesia (CCDC103-related)

Primary Ciliary Dyskinesia (CCDC151-related)

Primary Ciliary Dyskinesia (CCDC39-related)

Primary Ciliary Dyskinesia (DNAH11)

Primary Ciliary Dyskinesia (DNAH5-Related)

Primary Ciliary Dyskinesia (DNAI1-Related)

Primary Ciliary Dyskinesia (DNAI2-related)

Primary Ciliary Dyskinesia (RSPH9-related)

Primary Coenzyme Q10 Deficiency 7

Primary Hyperoxaluria Type 1

Primary Hyperoxaluria Type 2

Primary Hyperoxaluria Type 3

Primary Microcephaly

Progressive Cerebello-Cerebral Atrophy

Progressive Early-onset Encepahlopathy With Brain Atrophy And Thin Corpus Callosum (PEBAT) (TBCD)

Progressive Familial Intrahepatic Cholestasis 3 (ABCB4)

Progressive Familial Intrahepatic Cholestasis, Type 2

Progressive Myoclonic Epilepsy, Type 1B

Progressive Pseudorheumatoid Dysplasia

Prolidase Deficiency

Propionic Acidemia, PCCA-Related

Propionic Acidemia, PCCB-Related

Prothrombin Thrombophilia

Pseudocholinesterase Deficiency

Pseudoxanthoma Elasticum (ABCC6-related)

Pulmonary Surfactant Dysfunction

Pycnodysostosis

Pyridoxamine 5'-Phosphate Oxidase Deficiency

Pyridoxine-Dependent Epilepsy

Pyruvate Carboxylase Deficiency

Pyruvate Dehydrogenase E1-Alpha Deficiency

Pyruvate Dehydrogenase E1-Beta Deficiency

RLBP1-related Conditions (RLBP1)

RTEL1-related Disorders

RYR1-related Diseases

Refsum Disease (PHYH)

Renal Tubular Acidosis And Deafness

Retinitis Pigmentosa 25

Retinitis Pigmentosa 26

Retinitis Pigmentosa 28

Retinitis Pigmentosa 36

Retinitis Pigmentosa 36 (GNPAT)

Retinitis Pigmentosa 59 (DHDDS)

Retinitis Pigmentosa 62 (MAK)

Retinitis Pigmentosa 64 (and Other C8orf37-related Retinal Dystrophies

Rh Deficiency Syndrome

Rhizomelic Chondrodysplasia Punctata Type 1

Rhizomelic Chondrodysplasia Punctata, Type 3

Roberts Syndrome

SAMD9-related Conditions (SAMD9)

SCN1A-related Disorders

SMN2 COPIES

SPG11-related Conditions (SPG11)

Salla Disease

Salt And Pepper Developmental Regression Syndrome

Sandhoff Disease

Schimke Immunoosseous Dysplasia

Segawa Syndrome

Sepiapterin Reductase Deficiency

Severe Combined Immunodeficiency (IL7R-Related)

Severe Combined Immunodeficiency (JAK3-related)

Severe Combined Immunodeficiency (PTPRC-related)

Severe Combined Immunodeficiency Due To FOXN1 deficiency (FOXN1)

Severe Congenital Neutropenia 4

Short Chain Acyl-CoA Dehydrogenase Deficiency

Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis

Shwachman-Diamond Syndrome

Sialidosis, Type I And Type II

Sickle Cell Disease

Sjogren-Larsson Syndrome

Smith-Lemli-Opitz Syndrome

Spastic Paraplegia 7

Spastic Paraplegia Type 15

Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephal

Spherocytosis, Type 5

Amyotrophie musculaire spinale

Spinal Muscular Atrophy With Respiratory Distress 1 / Charcot-Marie-To

Spinocerebellar Ataxia (ANO10)

Spinocerebellar Ataxia With Axonal Neuropathy 3

Spondylocostal Dysostosis 1

Spondylometaepiphyseal Dysplasia (DDR2-related)

Spondylothoracic Dysostosis

Steel Syndrome

Steroid 5-alpha-reductase Deficiency (SRD5A2)

Steroid-resistant Nephrotic Syndrome

Stickler Syndrome (and Other COL11A2 Related Deafness Disorders)

Stuve-Wiedemann Syndrome

Sulfate Transporter-related Osteochondrodysplasia (SLC26A2)

Sulfite Oxidase Deficiency (SUOX)

TGM1-related Autosomal Recessive Congenital Ichthyosis

TMEM67-related Conditions

TPP1-related Neuronal Ceroid Lipofuscinosis

TRAAP-related Disease

TRPM1 Congenital Stationary Night Blindness

Tay-Sachs Disease (Counsyl)

Tay-Sachs Disease (LabCorp)

Tay-Sachs Enzyme (panel Part)

Telephone Genetic Counseling Summary

Thiamine-responsive Megaloblastic Anemia Syndrome

Thyroid Dyshormonogenesis 1

Thyroid Dyshormonogenesis 2A

Thyroid Dyshormonogenesis 3

Thyroid Dyshormonogenesis 4

Thyroid Dyshormonogenesis 5

Thyroid Dyshormonogenesis 6

Transcobalamin II Deficiency (TCN2)

Trichohepatoenteric Syndrome (SKIV2L)

Trichohepatoenteric Syndrome 1

Trimethylaminuria

Tuberous Sclerosis, AD (TSC2-related)

Tyrosinemia Type I

Tyrosinemia Type II

USH1C-related Disorders

USH2A-related Disorders

Usher Syndrome Type 1F

Usher Syndrome Type 3

Usher Syndrome, Type 1B

Usher Syndrome, Type ID

Very Long Chain Acyl-CoA Dehydrogenase Deficiency

Vici Syndrome

Vitamin D-dependent Rickets, Type I

Vitamin D-resistant Rickets, Type IIA

Walker-Warburg Syndrome

Warsaw Syndrome

Werner Syndrome

Wilson Disease

Wiskott-Aldrich Syndrome (WAS-related, X-linked)

Wolcott-Rallison Syndrome

Woodhouse-Sakati Syndrome

X-linked Adrenoleukodystrophy

X-linked Alport Syndrome

X-linked Congenital Adrenal Hypoplasia

X-linked Juvenile Retinoschisis

X-linked Myotubular Myopathy

X-linked Severe Combined Immunodeficiency

Xeroderma Pigmentosum Group A

Xeroderma Pigmentosum Group C

Xeroderma Pigmentosum Variant (POLH-related)

Xeroderma Pigmentosum, Group G

Zellweger Spectrum Disorder (PEX13-related)

Zellweger Spectrum Disorder (PEX16-related)

No donors found