Meet BFA0198* (BFA0198)
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14.11.24 EXTENDED PROFILE UPLOADED,
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FAMILY SLOTS PENDING AND SAMPLES PENDING
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Meet BFA0198* (BFA0198)
New Donor
14.11.24 EXTENDED PROFILE UPLOADED,
STAFF IMP PENDING
PROOF READ PENDING
FAMILY SLOTS PENDING AND SAMPLES PENDING
Brown
Black
178
75
A Rh+
+
No
Medical degree and enrolled in Doctoral Degree (MBBS/ MRCP) / Doctor/Medical Consultant
No
Counsyl Foresight Panel (at least 175 conditions)
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- No disease causing mutations detected
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- Spinal Muscular Atrophy : No disease causing mutations detected
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- Cystic Fibrosis
- Adenosine Deaminase Deficiency
- ABCC8-related Hyperinsulinism
- Andermann Syndrome
- Argininosuccinic Aciduria
- ARSACS
- Aspartylglycosaminuria
- Ataxia With Vitamin E Deficiency
- Ataxia-telangiectasia
- Autosomal Recessive Polycystic Kidney Disease
- Bardet-Biedl Syndrome, BBS1-related
- Bardet-Biedl Syndrome, BBS10-related
- Biotinidase Deficiency
- Bloom Syndrome
- Canavan Disease
- Carnitine Palmitoyltransferase IA Deficiency
- Carnitine Palmitoyltransferase II Deficiency
- Cartilage-hair Hypoplasia
- Citrullinemia Type 1
- CLN3-related Neuronal Ceroid Lipofuscinosis
- CLN5-related Neuronal Ceroid Lipofuscinosis
- CLN8-related Neuronal Ceroid Lipofuscinosis
- Cohen Syndrome
- 21-hydroxylase Deficient Congenital Adrenal Hyperplasia
- Congenital Disorder Of Glycosylation Type Ia
- Congenital Disorder Of Glycosylation Type Ib
- Costeff Optic Atrophy Syndrome
- Cystinosis
- D-bifunctional Protein Deficiency
- Dihydrolipoamide Dehydrogenase Deficiency
- Familial Mediterranean Fever
- Fanconi Anemia Type C
- Fragile X Syndrome
- Galactosemia
- Gaucher Disease
- GJB2-related DFNB1 Nonsyndromic Hearing Loss And Deafness
- Glutaric Acidemia Type 1
- Glycogen Storage Disease Type Ia
- Glycogen Storage Disease Type Ib
- Glycogen Storage Disease Type II
- Glycogen Storage Disease Type III
- GRACILE Syndrome
- Hb Beta Chain-related Hemoglobinopathy (including Beta Thalassemia And Sickle Cell Disease)
- Hereditary Fructose Intolerance
- HMG-CoA Lyase Deficiency
- Holocarboxylase Synthetase Deficiency
- Hexosaminidase A Deficiency (including Tay-Sachs Disease)
- Homocystinuria Caused By Cystathionine Beta-synthase Deficiency
- Hypophosphatasia, Autosomal Recessive
- Inclusion Body Myopathy 2
- Isovaleric Acidemia
- Joubert Syndrome 2
- Junctional Epidermolysis Bullosa, LAMA3-related
- Junctional Epidermolysis Bullosa, LAMB3-related
- Junctional Epidermolysis Bullosa, LAMC2-related
- Krabbe Disease
- Limb-girdle Muscular Dystrophy Type 2D
- Limb-girdle Muscular Dystrophy Type 2E
- Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
- Maple Syrup Urine Disease Type 1A
- Maple Syrup Urine Disease Type 1B
- Medium Chain Acyl-CoA Dehydrogenase Deficiency
- Megalencephalic Leukoencephalopathy With Subcortical Cysts
- Metachromatic Leukodystrophy
- Methylmalonic Acidemia MMAA-related
- Methylmalonic Acidemia MMAB-related
- Methylmalonic Acidemia MUT-related
- Mucolipidosis IV
- Mucopolysaccharidosis Type I
- Muscle-eye-brain Disease
- NEB-related Nemaline Myopathy
- Niemann-Pick Disease, SMPD1-associated
- Nijmegen Breakage Syndrome
- Pendred Syndrome
- PEX1-related Zellweger Syndrome Spectrum
- Phenylalanine Hydroxylase Deficiency
- Polyglandular Autoimmune Syndrome Type 1
- PPT1-related Neuronal Ceroid Lipofuscinosis
- Primary Carnitine Deficiency
- Primary Hyperoxaluria Type 1
- Primary Hyperoxaluria Type 2
- Propionic Acidemia, PCCA-Related
- Propionic Acidemia, PCCB-Related
- PROP1-related Combined Pituitary Hormone Deficiency
- Pycnodysostosis
- Rhizomelic Chondrodysplasia Punctata Type 1
- Salla Disease
- Sandhoff Disease
- Segawa Syndrome
- Short Chain Acyl-CoA Dehydrogenase Deficiency
- Sjogren-Larsson Syndrome
- Smith-Lemli-Opitz Syndrome
- Sulfate Transporter-related Osteochondrodysplasia
- Tyrosinemia Type I
- Usher Syndrome Type 1F
- Usher Syndrome Type 3
- Very Long Chain Acyl-CoA Dehydrogenase Deficiency
- Walker-Warburg Syndrome
- Wilson Disease
- Maple Syrup Urine Disease Type II
- 6-pyruvoyl-tetrahydropterin Synthase Deficiency
- 11-beta-hydroxylase-deficient Congenital Adrenal Hyperplasia
- Alstrom Syndrome
- AMT-related Glycine Encephalopathy
- Argininemia
- ATP7A-related Disorders
- Autosomal Recessive Osteopetrosis Type 1
- Bardet-Biedl Syndrome, BBS12-related
- Bardet-Biedl Syndrome, BBS2-related
- Calpainopathy
- Carbamoylphosphate Synthetase I Deficiency
- Cerebrotendinous Xanthomatosis
- CLN6-related Neuronal Ceroid Lipofuscinosis
- COL4A3-related Alport Syndrome
- COL4A4-related Alport Syndrome
- Congenital Disorder Of Glycosylation Type Ic
- Delta-sarcoglycanopathy
- Dysferlinopathy
- Dystrophinopathy (including Duchenne/Becker Muscular Dystrophy)
- ERCC6-related Disorders
- ERCC8-related Disorders
- EVC-related Ellis-van Creveld Syndrome
- EVC2-related Ellis-van Creveld Syndrome
- Fabry Disease
- Fanconi Anemia Complementation Group A
- FKRP-related Disorders
- Galactokinase Deficiency
- Gamma-sarcoglycanopathy
- GLB1-related Disorders
- GLDC-related Glycine Encephalopathy
- Hydrolethalus Syndrome
- KCNJ11-related Familial Hyperinsulinism
- LAMA2-related Muscular Dystrophy
- Leigh Syndrome, French-Canadian Type
- Lipoid Congenital Adrenal Hyperplasia
- Lysosomal Acid Lipase Deficiency
- MKS1-related Disorders
- Mucolipidosis III Gamma
- Mucopolysaccharidosis Type II
- Mucopolysaccharidosis Type IIIA
- Mucopolysaccharidosis Type IIIB
- Mucopolysaccharidosis Type IIIC
- Niemann-Pick Disease Type C2
- Ornithine Transcarbamylase Deficiency
- Peroxisome Biogenesis Disorder Type 3
- Peroxisome Biogenesis Disorder Type 4
- Peroxisome Biogenesis Disorder Type 5
- Peroxisome Biogenesis Disorder Type 6
- Primary Hyperoxaluria Type 3
- Pyruvate Carboxylase Deficiency
- RTEL1-related Disorders
- Spastic Paraplegia Type 15
- Spondylothoracic Dysostosis
- TGM1-related Autosomal Recessive Congenital Ichthyosis
- Tyrosinemia Type II
- USH1C-related Disorders
- USH2A-related Disorders
- X-linked Adrenoleukodystrophy
- X-linked Congenital Adrenal Hypoplasia
- X-linked Juvenile Retinoschisis
- X-linked Severe Combined Immunodeficiency
- Xeroderma Pigmentosum Group A
- Xeroderma Pigmentosum Group C
- Mucolipidosis II / IIIA
- Niemann-Pick Disease, Type C (NPC1-Related)
- Nephrotic Syndrome (NPHS1-Related) / Congenital Finnish Nephrosis
- Nephrotic Syndrome (NPHS2-Related) / Steroid-Resistant Nephrotic Syndr
- Familial Dysautonomia (ELP1)
- GJB6-CRYL1 Related Nonsyndromic Hearing Loss UK
- GJB6-CRYL1 Related Nonsyndromic Hearing Loss
- Alpha-Mannosidosis
- Methylmalonic Aciduria And Homocystinuria, CblC
- Usher Syndrome, Type 1B
- Neuronal Ceroid Lipofuscinosis, TPP1-related