Diagnostics Division (Centre for DNA Fingerprinting and Diagnostics), CDFD

General information

Diagnostics Division, CDFD
Centre for DNA Fingerprinting and Diagnostics
TULJAGUDA COMPLEX, MOZAMZAHI ROAD, NAMPALLY
HYDERABAD
Andhra Pradesh
India - 500001
http://www.cdfd.org.in/
Organization ID: 505641

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 151

Gene

GeneSubmissionsLast Updated
ABHD51Jan 24, 2019
ACE1Dec 19, 2016
ALDH18A11Feb 22, 2019
ALG11Jan 24, 2019
ALG31May 18, 2019
ALMS11Jan 5, 2016
ANTXR21Jun 27, 2016
ARMC91Nov 11, 2017
ARSB1Apr 29, 2016
BHLHA91Jun 27, 2016
BPNT21Jun 4, 2021
CASK1Jan 24, 2019
CDK81May 21, 2019
CLASP13May 21, 2019
CNTNAP11Jun 27, 2016
COL4A31Jan 21, 2020
COL4A41Jan 21, 2020
COL6A21Jun 27, 2016
COL6A31Jul 30, 2015
CRACR2A1Jul 22, 2020
CRELD11Feb 22, 2019
CRTAP1Feb 22, 2019
DACT31Jan 24, 2019
ENPP11May 18, 2019
EPG51Dec 19, 2016
ERI11Oct 15, 2018
EYA31Jul 22, 2020
F81Jun 27, 2016
FBN11Dec 19, 2016
FBN21Dec 19, 2016
FGFR31Feb 22, 2019
FKTN1May 18, 2019
GJC21Jun 27, 2016
GMPPB1Jun 27, 2016
GNPTAB30Feb 20, 2020
GNPTG4Feb 20, 2020
GPC31Jun 27, 2016
GUSB1Jan 24, 2019
HERC11Aug 31, 2015
HSPG21Jun 27, 2016
KLHL401Dec 24, 2018
LAMA21Jun 27, 2016
LOX1Dec 24, 2018
MFF-DT1Jan 21, 2020
MKS11Dec 24, 2018
MYO18A1May 18, 2019
NBN1May 18, 2019
NEK11Feb 16, 2021
NIPBL1Jan 24, 2019
NOG1Dec 19, 2016
OCLN1Oct 26, 2015
PAX11Nov 11, 2017
PCDH121Jan 24, 2019
PCDH191Jan 24, 2019
PDE10A1Nov 11, 2017
PEX11May 18, 2019
PPIB1Jun 27, 2016
PPT11Jan 24, 2019
RET2Jun 3, 2019
RNU4ATAC3May 21, 2019
RPGRIP11Jun 27, 2016
RXYLT11May 18, 2019
RYR12Feb 22, 2019
SERPINA111May 21, 2019
SGSH1Jan 24, 2019
SLC25A151Jan 24, 2019
SLCO2A13Jun 12, 2021
SMPD141Jun 14, 2021
SNX221Jun 27, 2016
SRFBP11Dec 24, 2018
SYNE11Jul 30, 2015
TSC11Dec 19, 2016
TTN1Jun 27, 2016
TTN-AS11Jun 27, 2016
UCHL11Nov 11, 2017
WDR621Mar 3, 2020
ZFPM22Feb 22, 2019
ZFPM2-AS11Feb 22, 2019
ZNF7781Jan 24, 2019

Condition

NameSubmissionsLast Updated
ALG1-CDG1Jan 24, 2019
ALG3-CDG1May 18, 2019
Abnormal facial shape6Jun 3, 2019
Abnormality of finger1Oct 15, 2018
Aganglionic megacolon1Jun 3, 2019
Alstrom syndrome1Jan 5, 2016
Arterial calcification, generalized, of infancy, 11May 18, 2019
Atrioventricular septal defect 21Feb 22, 2019
Bethlem myopathy 11Jul 30, 2015
Camptosynpolydactyly, complex1Jun 27, 2016
Central core myopathy2Feb 22, 2019
Cerebellar ataxia1Jan 24, 2019
Chondrodysplasia with joint dislocations, GPAPP type1Jun 4, 2021
Coarse facial features1Oct 15, 2018
Common atrium1May 21, 2019
Congenital contractural arachnodactyly2Dec 19, 2016
Congenital diaphragmatic hernia1May 21, 2019
Cornelia de Lange syndrome 11Jan 24, 2019
Cutis laxa, autosomal recessive IIIA1Feb 22, 2019
Diaphragmatic hernia 32Feb 22, 2019
Dyskinesia, limb and orofacial, infantile-onset1Nov 11, 2017
Dystonia1Jan 24, 2019
Early infantile epileptic encephalopathy 91Jan 24, 2019
Ebstein anomaly of the tricuspid valve1May 21, 2019
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1Jul 30, 2015
Exudative retinopathy1Jan 24, 2019
FG syndrome 41Jan 24, 2019
Fukuyama congenital muscular dystrophy1May 18, 2019
Global developmental delay2Jan 24, 2019
Heart, malformation of1May 21, 2019
Hereditary factor VIII deficiency disease1Jun 27, 2016
Hirschsprung disease 11Mar 8, 2019
Hyaline fibromatosis syndrome1Jun 27, 2016
Hydrops fetalis1May 18, 2019
Increased number of skin folds1Dec 24, 2018
Intellectual disability2Jan 24, 2019
Interphalangeal joint contracture of finger1Dec 24, 2018
Joubert syndrome 301Nov 11, 2017
Leber congenital amaurosis 62Dec 24, 2018
Lethal congenital contracture syndrome 71Jun 27, 2016
Leukodystrophy, hypomyelinating, 21Jun 27, 2016
Marfan syndrome2Dec 19, 2016
Meckel syndrome type 11Dec 24, 2018
Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability1Aug 31, 2015
Mental retardation and microcephaly with pontine and cerebellar hypoplasia1Jan 24, 2019
Merosin deficient congenital muscular dystrophy1Jun 27, 2016
Microcephaly1Jan 24, 2019
Microcephaly, normal intelligence and immunodeficiency1May 18, 2019
Mucolipidosis type II30Feb 20, 2020
Mucolipidosis type III gamma4Feb 20, 2020
Mucopolysaccharidosis type 61Apr 29, 2016
Mucopolysaccharidosis type 71Jan 24, 2019
Mucopolysaccharidosis, MPS-III-A1Jan 24, 2019
Multiple joint contractures1May 18, 2019
Muscular dystrophy1Jun 27, 2016
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101May 18, 2019
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 141Jun 27, 2016
Nemaline myopathy 81Dec 24, 2018
Neuronal ceroid lipofuscinosis 11Jan 24, 2019
Niemann-Pick disease, type A34Jun 14, 2021
Niemann-Pick disease, type B13Jun 14, 2021
Obesity1Jan 24, 2019
Osteodysplastic primordial dwarfism, type 13May 21, 2019
Osteogenesis imperfecta1Jun 27, 2016
Osteogenesis imperfecta type 71Feb 22, 2019
Otofaciocervical syndrome 21Nov 11, 2017
Pericardial effusion1May 21, 2019
Peroxisome biogenesis disorder 1A (Zellweger)1May 18, 2019
Pleural effusion2May 21, 2019
Primary autosomal recessive microcephaly 21Mar 3, 2020
Primary hypertrophic osteoarthropathy, autosomal recessive 23Jun 12, 2021
Progressive spastic paraparesis1Jan 24, 2019
Pseudo-Hurler polydystrophy30Feb 20, 2020
Pseudo-TORCH syndrome 11Oct 26, 2015
Pulmonary emphysema1Dec 24, 2018
Renal dysplasia1Dec 19, 2016
Schwartz-Jampel syndrome1Jun 27, 2016
Seizures1Jan 24, 2019
Short rib-polydactyly syndrome, Majewski type1Feb 16, 2021
Short stature1Jul 22, 2020
Simpson-Golabi-Behmel syndrome type 11Jun 27, 2016
Spastic paraplegia 79, autosomal recessive1Nov 11, 2017
Steroid-resistant nephrotic syndrome2Jan 21, 2020
Stillbirth1May 21, 2019
Tarsal-carpal coalition syndrome1Dec 19, 2016
Thanatophoric dysplasia type 11Feb 22, 2019
Triglyceride storage disease with ichthyosis1Jan 24, 2019
Tuberous sclerosis 11Dec 19, 2016
Ullrich congenital muscular dystrophy 12Jun 27, 2016
Unilateral renal agenesis1Oct 15, 2018
Ventriculomegaly1May 21, 2019
Vici syndrome1Dec 19, 2016

Testing in GTR

Disease nameNumber of tests
Achondroplasia1 test
Autosomal chromosomal disorder1 test
Becker muscular dystrophy1 test
Beta thalassemia intermedia1 test
Beta thalassemia major1 test
Beta thalassemia minor1 test
Biotinidase deficiency1 test
Chromosome 3, trisomy 3p1 test
Chromosome 5, trisomy 5p1 test
Complete trisomy 13 syndrome1 test
Complete trisomy 18 syndrome1 test
Complete trisomy 20 syndrome1 test
Complete trisomy 21 syndrome1 test
Congenital chromosomal disease1 test
Cystic fibrosis1 test
Deafness, autosomal recessive 1A1 test
Deafness, autosomal recessive 1b1 test
Deafness, digenic, GJB2/GJB61 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Dentatorubral-pallidoluysian atrophy1 test
Duchenne muscular dystrophy1 test
Dystrophinopathies1 test
Facial dysmorphism with multiple malformations1 test
Factor V deficiency1 test
Fragile X tremor/ataxia syndrome1 test
Friedreich ataxia1 test
Friedreich ataxia 11 test
Friedreich ataxia 21 test
Gilbert syndrome, susceptibility to1 test
Hb SS disease2 tests
Hemoglobinopathy2 tests
Hemophilia1 test
Hereditary factor II deficiency disease1 test
Hereditary factor VIII deficiency disease1 test
Hereditary pancreatitis1 test
Homocystinuria due to MTHFR deficiency1 test
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
Huntington disease1 test
Hurler syndrome1 test
Hyperhomocysteinemia1 test
Kennerknecht syndrome1 test
Klinefelter syndrome1 test
Leber hereditary optic neuropathy1 test
Mitochondrial DNA-Associated Leigh Syndrome and NARP1 test
Mucopolysaccharidosis2 tests
Mucopolysaccharidosis type 11 test
Mucopolysaccharidosis, MPS-I-H/S1 test
Mucopolysaccharidosis, MPS-I-S1 test
Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive1 test
Pregnancy loss, recurrent, susceptibility to, 11 test
Sex-linked hereditary disorder1 test
Sickle cell-Hemoglobin O Arab disease1 test
Sickle cell-beta-thalassemia2 tests
Sickle cell-hemoglobin C disease1 test
Sickle cell-hemoglobin D disease1 test
Spinal muscular atrophy1 test
Spinal muscular atrophy, distal, autosomal recessive, 11 test
Spinal muscular atrophy, type II1 test
Spinal muscular atrophy, type IV1 test
Steinert myotonic dystrophy syndrome1 test
Thalassemia1 test
Thalassemia intermedia1 test
Trisomy 81 test
Turner syndrome1 test
beta Thalassemia1 test
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