What are rare genetic disorders?

Rare genetic disorders are inherited diseases that occur in a small percentage of the population, often caused by mutations in a single gene or chromosome.

How does Green Array Labs test for rare disorders?

Green Array Labs uses advanced genetic testing techniques such as whole-exome sequencing (WES) and next-generation sequencing (NGS) to identify mutations linked to rare disorders.

Who should consider rare disease testing?

Individuals with unexplained symptoms, developmental delays, or a family history of rare conditions should consider genetic testing for early diagnosis.

Is genetic counseling provided with the test?

Yes, Green Array Labs offers genetic counseling to help patients and families understand test results and their implications.

Can early diagnosis help in treatment?

Yes, early and accurate diagnosis enables timely interventions, personalized care, and better management of the disorder.

Rare Disorders

Test Name	Sample Type	Turnover Time (TAT)
Achalasia-Addisonianism-Alacrima Syndrome	Blood	4 Weeks
Harlequin ichthyosis	Blood	4 Weeks
Stargardt Disease, Type 1	Blood	4 Weeks
Progressive Familial Intrahepatic Cholestasis, Type 2	Blood	4 Weeks
Progressive Familial Intrahepatic Cholestasis, Type 3	Blood	4 Weeks
Pseudoxanthoma elasticum	Blood	4 Weeks
Familial Hyperinsulinism, ABCC8-Related	Blood	4 Weeks
Adrenoleukodystrophy, X-Linked	Blood	4 Weeks
Mitochondrial Complex I Deficiency, ACAD9-Related	Blood	4 Weeks
Medium Chain Acyl-CoA Dehydrogenase Deficiency	Blood	4 Weeks
Short Chain Acyl-CoA Dehydrogenase Deficiency	Blood	4 Weeks
Short/branched chain acyl-CoA dehydrogenase	Blood	4 Weeks
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency	Blood	4 Weeks
Beta-Ketothiolase Deficiency	Blood	4 Weeks
Acyl-CoA Oxidase I Deficiency	Blood	4 Weeks
Combined Malonic and Methylmalonic Aciduria	Blood	4 Weeks
Severe Combined Immunodeficiency, ADA-Related	Blood	4 Weeks
Ehlers-Danlos Syndrome, Type VIIC	Blood	4 Weeks
Bilateral Frontoparietal Polymicrogyria	Blood	4 Weeks
Aspartylglucosaminuria	Blood	4 Weeks
Glycogen Storage Disease, Type III (Cori/Forbes)	Blood	4 Weeks
Rhizomelic Chondrodysplasia Punctata, Type 3	Blood	4 Weeks
Hyperoxaluria, Primary, Type 1	Blood	4 Weeks
Autoimmune polyendocrinopathy syndrome, type I	Blood	4 Weeks
Sjogren-Larsson Syndrome	Blood	4 Weeks
Pyridoxine-dependent epilepsy	Blood	4 Weeks
Hereditary Fructose Intolerance	Blood	4 Weeks
Congenital Disorder of Glycosylation, Type 1C	Blood	4 Weeks
Alstrom Syndrome	Blood	4 Weeks
Hypophosphatasia, ALPL-Related	Blood	4 Weeks
Persistent Müllerian duct syndrome type 1	Blood	4 Weeks
Persistent Müllerian duct syndrome type 2	Blood	4 Weeks
Glycine Encephalopathy, AMT-Related	Blood	4 Weeks
Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma (MEDNIK)	Blood	4 Weeks
Familial Nephrogenic Diabetes Insipidus, AQP2-Related	Blood	4 Weeks
Androgen insensitivity syndrome, X-Linked	Blood	4 Weeks
Argininemia	Blood	4 Weeks
Metachromatic Leukodystrophy, ARSA-Related	Blood	4 Weeks
Mucopolysaccharidosis, Type VI (Maroteaux-Lamy)	Blood	4 Weeks
Argininosuccinate Lyase Deficiency	Blood	4 Weeks
Asparagine Synthetase Deficiency	Blood	4 Weeks
Canavan Disease	Blood	4 Weeks
Citrullinemia, Type 1	Blood	4 Weeks
Ataxia-Telangiectasia	Blood	4 Weeks
enal Tubular Acidosis and Deafness, ATP6V1B1-Related	Blood	4 Weeks
Menkes Syndrome, X-Linked	Blood	4 Weeks
Wilson Disease	Blood	4 Weeks
Progressive Familial Intrahepatic Cholestasis, Type 1	Blood	4 Weeks
Alpha-Thalassemia Intellectual Disability Syndrome, X-Linked	Blood	4 Weeks
Bardet-Biedl Syndrome 1	Blood	4 Weeks
Bardet-Biedl Syndrome 10	Blood	4 Weeks
Bardet-Biedl Syndrome 12	Blood	4 Weeks
Bardet-Biedl Syndrome 2	Blood	4 Weeks
Bardet-Biedl Syndrome 4	Blood	4 Weeks
Bardet-Biedl Syndrome 9	Blood	4 Weeks
Pseudocholinesterase Deficiency	Blood	4 Weeks
Maple Syrup Urine Disease, Type 1A	Blood	4 Weeks
Maple Syrup Urine Disease, Type 1B	Blood	4 Weeks
GRACILE Syndrome	Blood	4 Weeks
Bloom Syndrome	Blood	4 Weeks
Fanconi anemia, Group J	Blood	4 Weeks
Bartter syndrome, Type 4a	Blood	4 Weeks
Biotinidase Deficiency	Blood	4 Weeks
Isolated growth hormone deficiency, Type III, X-linked	Blood	4 Weeks
Desbuquois dysplasia 1	Blood	4 Weeks
Limb-Girdle Muscular Dystrophy, Type 2A	Blood	4 Weeks
Catecholaminergic polymorphic ventricular tachycardia	Blood	4 Weeks
Homocystinuria, CBS-Related	Blood	4 Weeks
Mental retardation, autosomal recessive 3	Blood	4 Weeks
Usher Syndrome, Type 1D	Blood	4 Weeks
Leber Congenital Amaurosis, Type CEP290	Blood	4 Weeks
Retinitis Pigmentosa 26	Blood	4 Weeks
Cystic Fibrosis	Blood	4 Weeks
Choroideremia, X-Linked	Blood	4 Weeks
Congenital Myasthenic Syndrome, CHRNE-Related	Blood	4 Weeks
Escobar Syndrome	Blood	4 Weeks
Bare Lymphocyte Syndrome, CIITA-Related	Blood	4 Weeks
Ceroid Lipofuscinosis, Neuronal, 3	Blood	4 Weeks
Ceroid Lipofuscinosis, Neuronal, 5	Blood	4 Weeks
Ceroid Lipofuscinosis, Neuronal, 6	Blood	4 Weeks
Ceroid Lipofuscinosis, Neuronal, 8 (a.ka. Northern Epilepsy)	Blood	4 Weeks
Usher Syndrome, Type 3	Blood	4 Weeks
Achromatopsia, CNGA3-Related	Blood	4 Weeks
Achromatopsia, CNGB3-Related	Blood	4 Weeks
Fibrochondrogenesis type 2	Blood	4 Weeks
Alport Syndrome, COL4A3-Related	Blood	4 Weeks
Alport Syndrome, COL4A4-Related	Blood	4 Weeks
Alport Syndrome, X-Linked	Blood	4 Weeks
Dystrophic Epidermolysis Bullosa, COL7A1-Related	Blood	4 Weeks
Carbamoyl Phosphate Synthetase I Deficiency	Blood	4 Weeks
Carnitine Palmitoyltransferase IA Deficiency	Blood	4 Weeks
Carnitine Palmitoyltransferase II Deficiency	Blood	4 Weeks
Leber congenital amaurosis 8	Blood	4 Weeks
Cystinosis	Blood	4 Weeks
Papillon-Lefevre Syndrome	Blood	4 Weeks
Ceroid Lipofuscinosis, Neuronal, 10 (CLN10 Disease)	Blood	4 Weeks
Pycnodysostosis	Blood	4 Weeks
Chronic Granulomatous Disease, CYBA-Related	Blood	4 Weeks
Chronic Granulomatous Disease, X-Linked	Blood	4 Weeks
Congenital Adrenal Hyperplasia, 11-beta-hydroxylase-deficient	Blood	4 Weeks
Corticosterone Methyloxidase Deficiency	Blood	4 Weeks
Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency	Blood	4 Weeks
Aromatase Deficiency	Blood	4 Weeks
Primary Congenital Glaucoma	Blood	4 Weeks
Congenital Adrenal Hyperplasia, 21-hydroxylase-deficient	Blood	4 Weeks
Cerebrotendinous Xanthomatosis	Blood	4 Weeks
Vitamin D-dependent rickets type 1A	Blood	4 Weeks
Maple Syrup Urine Disease, Type 2	Blood	4 Weeks
Severe Combined Immunodeficiency, Type Athabaskan	Blood	4 Weeks
Xeroderma Pigmentosum Group E	Blood	4 Weeks
Smith-Lemli-Opitz Syndrome	Blood	4 Weeks
Retinitis Pigmentosa 59	Blood	4 Weeks
Dyskeratosis congenita, X-Linked	Blood	4 Weeks
Dihydrolipoamide Dehydrogenase Deficiency	Blood	4 Weeks
Duchenne/Becker Muscular Dystrophy	Blood	4 Weeks
Ciliary Dyskinesia, Primary 3	Blood	4 Weeks
Ciliary Dyskinesia, Primary 1	Blood	4 Weeks
Ciliary Dyskinesia, Primary 9	Blood	4 Weeks
Ciliary Dyskinesia, Primary, 16	Blood	4 Weeks
Congenital Myasthenic Syndrome, DOK7-Related	Blood	4 Weeks
Dihydropyrimidine Dehydrogenase Deficiency	Blood	4 Weeks
Limb-Girdle Muscular Dystrophy, Type 2B	Blood	4 Weeks
Hypohidrotic Ectodermal Dysplasia, X-Linked	Blood	4 Weeks
Hypohidrotic Ectodermal Dysplasia	Blood	4 Weeks
Wolcott-Rallison Syndrome	Blood	4 Weeks
Leukoencephalopathy with Vanishing White Matter	Blood	4 Weeks
Dysautonomia, familial (IKBKAP or ELP1)	Blood	4 Weeks
Dysautonomia	Blood	4 Weeks
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Blood	4 Weeks
Xeroderma Pigmentosum Group D	Blood	4 Weeks
Xeroderma Pigmentosum Group B	Blood	4 Weeks
Xeroderma Pigmentosum Group F	Blood	4 Weeks
Xeroderma pigmentosum Group G	Blood	4 Weeks
Cockayne syndrome, type B	Blood	4 Weeks
Cockayne syndrome, type A	Blood	4 Weeks
Roberts Syndrome	Blood	4 Weeks
Glutaric Acidemia, Type 2A	Blood	4 Weeks
Glutaric Acidemia, Type 2B	Blood	4 Weeks
GGlutaric Acidemia, Type 2Clutaric	Blood	4 Weeks
Ethylmalonic Encephalopathy	Blood	4 Weeks
Ellis-van Creveld Syndrome, EVC-Related	Blood	4 Weeks
Ellis-van Creveld Syndrome, EVC2-related	Blood	4 Weeks
Pontocerebellar Hypoplasia, Type 1B	Blood	4 Weeks
Retinitis Pigmentosa 25	Blood	4 Weeks
Factor XI deficiency	Blood	4 Weeks
Prothrombin deficiency	Blood	4 Weeks
Hemophilia A	Blood	4 Weeks
Hemophilia B	Blood	4 Weeks
Tyrosinemia, Type I	Blood	4 Weeks
Retinitis Pigmentosa 28	Blood	4 Weeks
Fanconi Anemia, Group A	Blood	4 Weeks
Fanconi Anemia, Group C	Blood	4 Weeks
Fanconi Anemia, Group G	Blood	4 Weeks
Fumarase Deficiency	Blood	4 Weeks
Limb-Girdle Muscular Dystrophy, Type 2I	Blood	4 Weeks
Walker-Warburg Syndrome, FKTN-Related	Blood	4 Weeks
Glycogen Storage Disease, Type IA	Blood	4 Weeks
Glucose-6-Phosphate Dehydrogenase Deficiency*	Blood	4 Weeks
Glycogen Storage Disease, Type II (Pompe Disease)	Blood	4 Weeks
Krabbe Disease	Blood	4 Weeks
Galactose epimerase deficiency	Blood	4 Weeks
Galactokinase Deficiency (Galactosemia, Type II)	Blood	4 Weeks
Mucopolysaccharidosis, Type IVA	Blood	4 Weeks
Hyperphosphatemic familial tumoral calcinosis	Blood	4 Weeks
Galactosemia	Blood	4 Weeks
Guanidinoacetate Methyltransferase Deficiency	Blood	4 Weeks
Gaucher Disease	Blood	4 Weeks
Glycogen Storage Disease, Type IV	Blood	4 Weeks
Glutaric Acidemia, Type 1	Blood	4 Weeks
Dopa-responsive dystonia	Blood	4 Weeks
Grebe syndrome	Blood	4 Weeks
Combined Oxidative Phosphorylation Deficiency 1	Blood	4 Weeks
Isolated growth hormone deficiency, Type IA/II	Blood	4 Weeks
Isolated growth hormone deficiency, Type IB	Blood	4 Weeks
Charcot-Marie-Tooth Disease with Deafness, X-Linked	Blood	4 Weeks
Non-Syndromic Hearing Loss (a.k.a. Connexin 26)	Blood	4 Weeks
Erythrokeratodermia variabilis et progressiva	Blood	4 Weeks
Non-Syndromic Hearing Loss (a.k.a. Connexin 30)	Blood	4 Weeks
Fabry Disease	Blood	4 Weeks
Mucopolysaccharidosis, Type IVB / GM1 Gangliosidosis	Blood	4 Weeks
Glycine Encephalopathy, GLDC-Related	Blood	4 Weeks
Lethal Congenital Contracture Syndrome 1	Blood	4 Weeks
Inclusion Body Myopathy 2	Blood	4 Weeks
Mucolipidosis II/IIIA	Blood	4 Weeks
Mucolipidosis III gamma	Blood	4 Weeks
Mucopolysaccharidosis, Type IIID (Sanfilippo D)	Blood	4 Weeks
Geroderma osteodysplastica	Blood	4 Weeks
Bernard-Soulier Syndrome, Type A2	Blood	4 Weeks
Bernard-Soulier Syndrome, Type B	Blood	4 Weeks
Bernard-Soulier Syndrome, Type C	Blood	4 Weeks
Primary Hyperoxaluria, Type 2	Blood	4 Weeks
Leber congenital amaurosis 1	Blood	4 Weeks
Mucopolysaccharidosis, Type VII	Blood	4 Weeks
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency	Blood	4 Weeks
Trifunctional protein deficiency	Blood	4 Weeks
Congenital Neutropenia, HAX1-Related	Blood	4 Weeks
Alpha-Thalassemia	Blood	4 Weeks
Alpha-Thalassemia	Blood	4 Weeks
Beta-Hemoglobinopathies	Blood	4 Weeks
Tay-Sachs Disease	Blood	4 Weeks
Sandhoff Disease	Blood	4 Weeks
Hemochromatosis, Type 1	Blood	4 Weeks
Hemochromatosis, Type 2A	Blood	4 Weeks
Alkaptonuria	Blood	4 Weeks
Mucopolysaccharidosis, Type IIIC (Sanfilippo C)	Blood	4 Weeks
Holocarboxylase Synthetase Deficiency	Blood	4 Weeks
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency	Blood	4 Weeks
Heme Oxygenase-1 Deficiency	Blood	4 Weeks
Primary Hyperoxaluria, Type 3	Blood	4 Weeks
Tyrosinemia, Type III	Blood	4 Weeks
Hermansky-Pudlak Syndrome 1	Blood	4 Weeks
Hermansky-Pudlak Syndrome 3	Blood	4 Weeks
Hermansky-Pudlak syndrome 4	Blood	4 Weeks
17-beta hydroxysteroid dehydrogenase 3 deficiency	Blood	4 Weeks
D-Bifunctional Protein Deficiency	Blood	4 Weeks
3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency	Blood	4 Weeks
Hydrolethalus Syndrome	Blood	4 Weeks
Mucopolysaccharidosis, Type II (Hunter Syndrome)	Blood	4 Weeks
Mucopolysaccharidosis, Type I (Hurler Syndrome)	Blood	4 Weeks
Severe Combined Immunodeficiency, X-Linked	Blood	4 Weeks
Glanzmann thrombasthenia	Blood	4 Weeks
Isovaleric Acidemia	Blood	4 Weeks
Congenital Hyperinsulinism, KCNJ11-Related	Blood	4 Weeks
LAMA2-related Muscular Dystrophy	Blood	4 Weeks
Herlitz Junctional Epidermolysis Bullosa, LAMA3-Related	Blood	4 Weeks
Herlitz Junctional Epidermolysis Bullosa, LAMB3-Related	Blood	4 Weeks
Leber Congenital Amaurosis, Type LCA5	Blood	4 Weeks
Familial Hypercholesterolemia, LDLR-Related	Blood	4 Weeks
Familial Hypercholesterolemia, LDLRAP1-Related	Blood	4 Weeks
Leydig cell hypoplasia	Blood	4 Weeks
Stuve-Wiedemann Syndrome	Blood	4 Weeks
Lysosomal Acid Lipase Deficiency	Blood	4 Weeks
Woolly Hair/Hypotrichosis Syndrome	Blood	4 Weeks
Deafness, Autosomal Recessive 77	Blood	4 Weeks
Lipoprotein Lipase Deficiency	Blood	4 Weeks
Leigh Syndrome, French-Canadian Type	Blood	4 Weeks
Chediak-Higashi syndrome	Blood	4 Weeks
Alpha-Mannosidosis	Blood	4 Weeks
Hypermethioninemia	Blood	4 Weeks
3-Methylcrotonyl-CoA Carboxylase 1 Deficiency	Blood	4 Weeks
3-Methylcrotonyl-CoA Carboxylase 2 Deficiency	Blood	4 Weeks
Mucolipidosis, Type IV	Blood	4 Weeks
RETT Syndrome	Blood	4 Weeks
Microcephaly, postnatal progressive, with seizures and brain atrophy	Blood	4 Weeks
Familial Mediterranean Fever	Blood	4 Weeks
Spondylothoracic Dysostosis, MESP2-Related	Blood	4 Weeks
Ceroid Lipofuscinosis, Neuronal, 7	Blood	4 Weeks
Bardet-Biedl Syndrome 6	Blood	4 Weeks
Meckel-Gruber Syndrome, Type 1	Blood	4 Weeks
Megalencephalic Leukoencephalopathy with Subcortical Cysts	Blood	4 Weeks
Malonyl-CoA decarboxylase deficiency	Blood	4 Weeks
Methylmalonic Aciduria, MMAA-Related	Blood	4 Weeks
Methylmalonic Aciduria, MMAB-Related	Blood	4 Weeks
Methylmalonic Aciduria and Homocystinuria, Type cblC	Blood	4 Weeks
Methylmalonic Aciduria and Homocystinuria, Type cblD	Blood	4 Weeks
Molybdenum cofactor deficiency	Blood	4 Weeks
Congenital Disorder of Glycosylation, Type 1B	Blood	4 Weeks
Congenital Amegakaryocytic Thrombocytopenia	Blood	4 Weeks
Hepatocerebral Mitochondrial DNA Depletion Syndrome, MPV17-Related	Blood	4 Weeks
Ataxia-telangiectasia-like disorder 1	Blood	4 Weeks
Homocystinuria due to Deficiency of MTHFR	Blood	4 Weeks
Myotubular Myopathy, X-Linked	Blood	4 Weeks
Homocystinuria, Type cblE	Blood	4 Weeks
Abetalipoproteinemia	Blood	4 Weeks
Methylmalonic Aciduria, Type mut(0)	Blood	4 Weeks
Deafness, autosomal recessive, 3	Blood	4 Weeks
Usher Syndrome, Type 1B	Blood	4 Weeks
Mucopolysaccharidosis, Type IIIB (Sanfilippo B)	Blood	4 Weeks
N-acetylglutamate Synthase Deficiency	Blood	4 Weeks
Nijmegen Breakage Syndrome	Blood	4 Weeks
Charcot-Marie-Tooth Disease type 4D	Blood	4 Weeks
Mitochondrial Complex I Deficiency, NDUFAF5-Related	Blood	4 Weeks
Mitochondrial complex I deficiency	Blood	4 Weeks
Mitochondrial Complex I Deficiency, NDUFS6-Related	Blood	4 Weeks
Nemaline Myopathy, NEB-Related	Blood	4 Weeks
Sialidosis	Blood	4 Weeks
Hydatidiform Mole, Recurrent	Blood	4 Weeks
Niemann-Pick Disease, Type C1/D	Blood	4 Weeks
Niemann-Pick Disease, Type C2	Blood	4 Weeks
Juvenile Nephronophthisis	Blood	4 Weeks
Congenital Finnish Nephrosis	Blood	4 Weeks
Steroid-Resistant Nephrotic Syndrome	Blood	4 Weeks
Congenital Adrenal Hypoplasia, X-linked	Blood	4 Weeks
Enhanced S-Cone Syndrome	Blood	4 Weeks
Congenital Insensitivity to Pain with Anhidrosis (CIPA)	Blood	4 Weeks
Ornithine Aminotransferase Deficiency	Blood	4 Weeks
Lowe syndrome, X-Linked	Blood	4 Weeks
Costeff Syndrome (3-Methylglutaconic Aciduria, Type 3)	Blood	4 Weeks
Ornithine Transcarbamylase Deficiency	Blood	4 Weeks
Phenylketonuria	Blood	4 Weeks
Pantothenate Kinase-Associated Neurodegeneration	Blood	4 Weeks
Pyruvate Carboxylase Deficiency	Blood	4 Weeks
Propionic Acidemia, PCCA-Related	Blood	4 Weeks
Propionic Acidemia, PCCB-Related Hypoplasia, Type 1B	Blood	4 Weeks
Usher Syndrome, Type 1F	Blood	4 Weeks
Pyruvate Dehydrogenase Deficiency, X-Linked	Blood	4 Weeks
Pyruvate Dehydrogenase Deficiency, PDHB-Related	Blood	4 Weeks
Prolidase deficiency	Blood	4 Weeks
Cytochrome-c oxidase deficiency	Blood	4 Weeks
Peroxisome Biogenesis Disorder 1A (Zellweger)	Blood	4 Weeks
Peroxisome Biogenesis Disorder 6A (Zellweger)	Blood	4 Weeks
Peroxisome Biogenesis Disorder 3A (Zellweger)	Blood	4 Weeks
Peroxisome Biogenesis Disorder 5A (Zellweger)	Blood	4 Weeks
Peroxisome Biogenesis Disorder 4A (Zellweger)	Blood	4 Weeks
Rhizomelic Chondrodysplasia Punctata, Type 1	Blood	4 Weeks
Glycogen Storage Disease, Type VII	Blood	4 Weeks
Phosphoglycerate Dehydrogenase Deficiency	Blood	4 Weeks
Multiple congenital anomalies-hypotonia-seizures syndrome 1	Blood	4 Weeks
Polycystic Kidney Disease, Autosomal Recessive	Blood	4 Weeks
Infantile neuroaxonal dystrophy 1	Blood	4 Weeks
Congenital Disorder of Glycosylation, Type 1A, PMM2-Related	Blood	4 Weeks
Pyridoxal 5'-phosphate-dependent epilepsy	Blood	4 Weeks
POLG-Related Disorders	Blood	4 Weeks
Xeroderma pigmentosum Variant	Blood	4 Weeks
Muscle-Eye-Brain Disease, POMGNT1-Related	Blood	4 Weeks
Cytochrome P450 oxidoreductase deficiency	Blood	4 Weeks
Ceroid Lipofuscinosis, Neuronal, 1	Blood	4 Weeks
Myasthenic syndrome, congenital, 22	Blood	4 Weeks
Combined Pituitary Hormone Deficiency 2	Blood	4 Weeks
Arts syndrome, X-Linked	Blood	4 Weeks
Metachromatic Leukodystrophy, PSAP-Related	Blood	4 Weeks
6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency	Blood	4 Weeks
Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1)	Blood	4 Weeks
Glycogen Storage Disease, Type V (McArdle Disease)	Blood	4 Weeks
Carpenter Syndrome	Blood	4 Weeks
Omenn Syndrome, RAG1-Related	Blood	4 Weeks
Omenn Syndrome, RAG2-Related	Blood	4 Weeks
Congenital Myasthenic Syndrome, RAPSN-Related	Blood	4 Weeks
Pontocerebellar Hypoplasia, Type 1 and 6, RARS2-Related	Blood	4 Weeks
Leber Congenital Amaurosis, Type RDH12	Blood	4 Weeks
Retinal Dystrophies, RLBP1-Associated	Blood	4 Weeks
Cartilage-Hair Hypoplasia	Blood	4 Weeks
Aicardi-Goutieres syndrome, RNASEH2C-related	Blood	4 Weeks
Leber Congenital Amaurosis 2	Blood	4 Weeks
Ciliopathies, RPGRIP1L-Related	Blood	4 Weeks
Juvenile Retinoschisis, X-Linked	Blood	4 Weeks
Dyskeratosis Congenita, RTEL1-Related	Blood	4 Weeks
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay	Blood	4 Weeks
MIRAGE syndrome	Blood	4 Weeks
Aicardi-Goutires Syndrome	Blood	4 Weeks
Shwachman-Diamond syndrome	Blood	4 Weeks
Pontocerebellar Hypoplasia, Type 2D	Blood	4 Weeks
Alpha-1-Antitrypsin Deficiency	Blood	4 Weeks
Limb-Girdle Muscular Dystrophy, Type 2D	Blood	4 Weeks
Limb-Girdle Muscular Dystrophy, Type 2E	Blood	4 Weeks
Limb-Girdle Muscular Dystrophy, Type 2F	Blood	4 Weeks
Limb-Girdle Muscular Dystrophy, Type 2C	Blood	4 Weeks
Mucopolysaccharidosis, Type IIIA (Sanfilippo A)	Blood	4 Weeks
Gitelman Syndrome	Blood	4 Weeks
Agenesis of the Corpus Callosum with Peripheral Neuropathy (Andermann Syndrome)	Blood	4 Weeks
Salla Disease	Blood	4 Weeks
Megaloblastic Anemia Syndrome	Blood	4 Weeks
Carnitine Deficiency	Blood	4 Weeks
Citrullinemia, Type II	Blood	4 Weeks
Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome	Blood	4 Weeks
Carnitine-acylcarnitine translocase deficiency	Blood	4 Weeks
Achondrogenesis, Type 1B	Blood	4 Weeks
Congenital Chloride Diarrhea	Blood	4 Weeks
Pendred Syndrome	Blood	4 Weeks
Autism Spectrum, Epilepsy and Arthrogryposis	Blood	4 Weeks
Glycogen Storage Disease, Type IB	Blood	4 Weeks
Acrodermatitis Enteropathica	Blood	4 Weeks
Cystinuria, Type A	Blood	4 Weeks
Oculocutaneous albinism, Type 4	Blood	4 Weeks
Corneal Dystrophy and Perceptive Deafness	Blood	4 Weeks
Creatine Transporter Defect (Cerebral Creatine Deficiency Syndrome 1, X-Linked)	Blood	4 Weeks
Lysinuric Protein Intolerance	Blood	4 Weeks
Cystinuria, Type B	Blood	4 Weeks
Schimke Immunoosseous Dysplasia	Blood	4 Weeks
Spinal Muscular Atrophy	Blood	4 Weeks
Niemann-Pick Disease, Types A/B	Blood	4 Weeks
5-alpha reductase deficiency	Blood	4 Weeks
GM3 synthase deficiency	Blood	4 Weeks
Lipoid Congenital Adrenal Hyperplasia	Blood	4 Weeks
Deafness, autosomal recessive 16	Blood	4 Weeks
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	Blood	4 Weeks
Multiple Sulfatase Deficiency	Blood	4 Weeks
Leigh Syndrome	Blood	4 Weeks
Tyrosinemia, Type II	Blood	4 Weeks
Osteopetrosis, Infantile Malignant, TCIRG1-Related	Blood	4 Weeks
Hereditary Spastic Paraparesis, Type 49	Blood	4 Weeks
Hemochromatosis, Type 3, TFR2-Related	Blood	4 Weeks
Lamellar Ichthyosis, Type 1	Blood	4 Weeks
Segawa Syndrome, TH-Related	Blood	4 Weeks
Deafness, autosomal dominant 36, autosomal recessive 7	Blood	4 Weeks
Joubert Syndrome 2 / Meckel Syndrome 2	Blood	4 Weeks
Congenital hypothyroidism	Blood	4 Weeks
Ceroid Lipofuscinosis, Neuronal, 2	Blood	4 Weeks
Aicardi-Goutieres syndrome, TREX1-related	Blood	4 Weeks
Bardet-Biedl syndrome 11	Blood	4 Weeks
Mulibrey nanism syndrome	Blood	4 Weeks
Acute Infantile Liver Failure, TRMU-Related	Blood	4 Weeks
Pontocerebellar hypoplasia	Blood	4 Weeks
Combined Oxidative Phosphorylation Deficiency 3	Blood	4 Weeks
Congenital hypothyroidism	Blood	4 Weeks
Hypothyroidism, congenital, nongoitrous, 1	Blood	4 Weeks
Tricho-Hepato-Enteric Syndrome	Blood	4 Weeks
Familial dilated cardiomyopathy	Blood	4 Weeks
Ataxia with Vitamin E Deficiency	Blood	4 Weeks
Myoneurogastrointestinal Encephalopathy (MNGIE)	Blood	4 Weeks
Oculocutaneous Albinism, Type 1	Blood	4 Weeks
Oculocutaneous albinism, Type 3	Blood	4 Weeks
Crigler-Najjar Syndrome	Blood	4 Weeks
Beta-ureidopropionase deficiency	Blood	4 Weeks
Usher Syndrome, Type 1C	Blood	4 Weeks
Usher Syndrome, Type 2A	Blood	4 Weeks
Choreo-acanthocytosis	Blood	4 Weeks
Cohen Syndrome	Blood	4 Weeks
Congenital Neutropenia, VPS45-Related	Blood	4 Weeks
Pontocerebellar Hypoplasia, Type 2E	Blood	4 Weeks
Pontocerebellar Hypoplasia, Type 1A	Blood	4 Weeks
Microphthalmia/Anophthalmia, VSX2-Related	Blood	4 Weeks
Von Willebrand disease	Blood	4 Weeks
Wiskott-Aldrich syndrome, X-Linked	Blood	4 Weeks
Progressive Pseudorheumatoid Dysplasia	Blood	4 Weeks
Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome	Blood	4 Weeks
Werner Syndrome	Blood	4 Weeks
Xeroderma pigmentosum Group A	Blood	4 Weeks
Xeroderma Pigmentosum Group C	Blood	4 Weeks
Congenital Hearing loss	Blood	4 Weeks

Rare Disorders

Test Name

Sample Type

Turnover Time (TAT)

Achalasia-Addisonianism-Alacrima Syndrome

Blood

4 Weeks

Harlequin ichthyosis

Blood

4 Weeks

Stargardt Disease, Type 1

Blood

4 Weeks

Progressive Familial Intrahepatic Cholestasis, Type 2

Blood

4 Weeks

Progressive Familial Intrahepatic Cholestasis, Type 3

Blood

4 Weeks

Pseudoxanthoma elasticum

Blood

4 Weeks

Familial Hyperinsulinism, ABCC8-Related

Blood

4 Weeks

Adrenoleukodystrophy, X-Linked

Blood

4 Weeks

Mitochondrial Complex I Deficiency, ACAD9-Related

Blood

4 Weeks

Medium Chain Acyl-CoA Dehydrogenase Deficiency

Blood

4 Weeks

Short Chain Acyl-CoA Dehydrogenase Deficiency

Blood

4 Weeks

Short/branched chain acyl-CoA dehydrogenase

Blood

4 Weeks

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

Blood

4 Weeks

Beta-Ketothiolase Deficiency

Blood

4 Weeks

Acyl-CoA Oxidase I Deficiency

Blood

4 Weeks

Combined Malonic and Methylmalonic Aciduria

Blood

4 Weeks

Severe Combined Immunodeficiency, ADA-Related

Blood

4 Weeks

Ehlers-Danlos Syndrome, Type VIIC

Blood

4 Weeks

Bilateral Frontoparietal Polymicrogyria

Blood

4 Weeks

Aspartylglucosaminuria

Blood

4 Weeks

Glycogen Storage Disease, Type III (Cori/Forbes)

Blood

4 Weeks

Rhizomelic Chondrodysplasia Punctata, Type 3

Blood

4 Weeks

Hyperoxaluria, Primary, Type 1

Blood

4 Weeks

Autoimmune polyendocrinopathy syndrome, type I

Blood

4 Weeks

Sjogren-Larsson Syndrome

Blood

4 Weeks

Pyridoxine-dependent epilepsy