Diagnostics Division (CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS)
General information
Diagnostics Division
CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
Inner Ring Road, Uppal
HYDERABAD-500 039
Andhra Pradesh
India - 500039
http://www.cdfd.org.in/servicespages/diagnostics.html
Organization ID: 505641
CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
Inner Ring Road, Uppal
HYDERABAD-500 039
Andhra Pradesh
India - 500039
http://www.cdfd.org.in/servicespages/diagnostics.html
Organization ID: 505641
Personnel
- Shagun Aggarwal
Phone: +91-04024749338
Email: shagun.genetics@gmail.com - Ashwin Dalal
Phone: +91-04024749335
Email: adalal@cdfd.org.in - Sobhan Babu
Phone: +91-04024749338
Email: sobhan@cdfd.org.in - Amrita Bhattacherjee, Informatics staff
Phone: +91-40-27216148
Email: amritab@cdfd.org.in - Maria Celestina Vanaja
Phone: +91-04024749338
Email: drmcvanaja@cdfd.org.in - Ashwin Dalal, Lab Director
Phone: 914024749335
Email: nidaan@cdfd.org.in - Aneek Das Bhowmik
Phone: +91-04024749327
Email: aneek@cdfd.org.in - Usha Dutta
Phone: +91-04024749338
Email: usha@cdfd.org.in - Anjana Kar
Phone: +91-04024749338
Email: anjanakar@cdfd.org.in - Divya Pasumarthi
Phone: +91-04024749338
Email: pdivya@cdfd.org.in - Prajyna Ranganath
Phone: +91-04024749338
Email: prajnyaranganath@gmail.com - Ikrormi Rungsung, Staff
Phone: +91-40-27216148
Email: ikrormi@cdfd.org.in - Venugopal S Vineeth, Staff
Phone: +91-40-27216148
Email: vineethvs@cdfd.org.in
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 186
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABHD5 | 1 | Jan 24, 2019 |
| ACE | 1 | Dec 19, 2016 |
| ALDH18A1 | 1 | Feb 22, 2019 |
| ALG1 | 1 | Jan 24, 2019 |
| ALG3 | 1 | May 18, 2019 |
| ALMS1 | 1 | Jan 5, 2016 |
| ANTXR2 | 1 | Jun 27, 2016 |
| AP4M1 | 1 | Jul 27, 2022 |
| ARMC9 | 1 | Nov 11, 2017 |
| ARSB | 1 | Apr 29, 2016 |
| ATP1A2 | 1 | Jul 27, 2022 |
| AVEN | 1 | Jul 27, 2022 |
| BHLHA9 | 1 | Jun 27, 2016 |
| BPNT2 | 1 | Jun 4, 2021 |
| CASK | 1 | Jan 24, 2019 |
| CDK8 | 1 | May 21, 2019 |
| CENPJ | 1 | Jul 18, 2022 |
| CLASP1 | 3 | May 21, 2019 |
| CNTNAP1 | 1 | Jun 27, 2016 |
| COL1A1 | 1 | Aug 23, 2022 |
| COL4A3 | 1 | Jan 21, 2020 |
| COL4A4 | 1 | Jan 21, 2020 |
| COL6A2 | 1 | Jun 27, 2016 |
| COL6A3 | 1 | Jul 30, 2015 |
| COMP | 1 | Jul 27, 2022 |
| CRACR2A | 1 | Jul 22, 2020 |
| CRELD1 | 1 | Feb 22, 2019 |
| CRTAP | 1 | Feb 22, 2019 |
| CTSA | 1 | Jul 26, 2022 |
| CYP26B1 | 1 | Jan 3, 2023 |
| DACT3 | 1 | Jan 24, 2019 |
| DYNC2H1 | 2 | Jul 27, 2022 |
| ENG | 1 | Feb 28, 2022 |
| ENPP1 | 1 | May 18, 2019 |
| EPG5 | 1 | Dec 19, 2016 |
| ERI1 | 1 | Oct 15, 2018 |
| ESCO2 | 1 | Jul 18, 2022 |
| EYA3 | 1 | Jul 22, 2020 |
| F8 | 1 | Jun 27, 2016 |
| FBN1 | 1 | Dec 19, 2016 |
| FBN2 | 1 | Dec 19, 2016 |
| FBXL4 | 2 | Jul 19, 2022 |
| FGFR3 | 1 | Feb 22, 2019 |
| FKTN | 1 | May 18, 2019 |
| GBA1 | 1 | Mar 3, 2022 |
| GJC2 | 1 | Jun 27, 2016 |
| GMPPB | 1 | Jun 27, 2016 |
| GNPTAB | 30 | Feb 20, 2020 |
| GNPTG | 4 | Feb 20, 2020 |
| GPC3 | 1 | Jun 27, 2016 |
| GUSB | 1 | Jan 24, 2019 |
| HERC1 | 1 | Aug 31, 2015 |
| HSPG2 | 1 | Jun 27, 2016 |
| KANSL1 | 1 | Jul 26, 2022 |
| KLHL40 | 1 | Dec 24, 2018 |
| LAMA2 | 1 | Jun 27, 2016 |
| LOC106627981 | 1 | Mar 3, 2022 |
| LOC122889011 | 1 | Jul 30, 2015 |
| LOC129994126 | 1 | Apr 29, 2016 |
| LOX | 1 | Dec 24, 2018 |
| MFF-DT | 1 | Jan 21, 2020 |
| MKS1 | 1 | Dec 24, 2018 |
| MUSK | 1 | Jul 26, 2022 |
| MYH3 | 1 | Jul 27, 2022 |
| MYO18A | 1 | May 18, 2019 |
| NBN | 1 | May 18, 2019 |
| NEK1 | 2 | Jul 27, 2022 |
| NIPBL | 1 | Jan 24, 2019 |
| NOG | 1 | Dec 19, 2016 |
| OCLN | 1 | Oct 26, 2015 |
| PAX1 | 1 | Nov 11, 2017 |
| PCDH12 | 1 | Jan 24, 2019 |
| PCDH19 | 1 | Jan 24, 2019 |
| PDE10A | 1 | Nov 11, 2017 |
| PEX1 | 1 | May 18, 2019 |
| PHGDH | 1 | Jul 26, 2022 |
| PKHD1 | 1 | Mar 3, 2022 |
| PLD1 | 1 | Jul 18, 2022 |
| PLOD2 | 1 | Jul 18, 2022 |
| POMT1 | 2 | Jul 18, 2022 |
| PPIB | 1 | Jun 27, 2016 |
| PPT1 | 1 | Jan 24, 2019 |
| PTPN11 | 1 | Jul 28, 2022 |
| RET | 2 | Jun 3, 2019 |
| RNF14 | 1 | Jan 24, 2019 |
| RNF17 | 1 | Jul 18, 2022 |
| RNU4ATAC | 3 | May 21, 2019 |
| ROR2 | 2 | Jul 26, 2022 |
| RPGRIP1 | 1 | Jun 27, 2016 |
| RPGRIP1L | 1 | Jul 26, 2022 |
| RXYLT1 | 1 | May 18, 2019 |
| RYR1 | 2 | Feb 22, 2019 |
| RYR3 | 2 | Jul 27, 2022 |
| RYR3-DT | 1 | Jul 27, 2022 |
| SERPINA11 | 1 | May 21, 2019 |
| SGSH | 1 | Jan 24, 2019 |
| SLC25A15 | 1 | Jan 24, 2019 |
| SLC26A2 | 1 | Mar 3, 2022 |
| SLC6A5 | 1 | Jul 26, 2022 |
| SLCO2A1 | 3 | Jun 12, 2021 |
| SMPD1 | 41 | Jun 14, 2021 |
| SNX22 | 1 | Jun 27, 2016 |
| SRFBP1 | 1 | Dec 24, 2018 |
| SYNE1 | 1 | Jul 30, 2015 |
| TMCO1 | 1 | Jul 19, 2022 |
| TSC1 | 1 | Dec 19, 2016 |
| TTC8 | 1 | Jul 26, 2022 |
| TTN | 1 | Jun 27, 2016 |
| TTN-AS1 | 1 | Jun 27, 2016 |
| UCHL1 | 1 | Nov 11, 2017 |
| WDR62 | 1 | Mar 3, 2020 |
| WNT10B | 1 | Jul 26, 2022 |
| ZFPM2 | 2 | Feb 22, 2019 |
| ZFPM2-AS1 | 1 | Feb 22, 2019 |
| ZNF778 | 1 | Jan 24, 2019 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue | 1 test |
| Achondroplasia | 1 test |
| Advanced maternal age | 1 test |
| Alkaptonuria | 1 test |
| Alopecia - intellectual disability syndrome | 1 test |
| Aminoaciduria | 1 test |
| Anemia | 2 tests |
| Aneuploidy, chromosomal rearrangements, chromosomal deletion, chromosomal duplication | 1 test |
| Autosomal chromosomal disorder | 1 test |
| Autosomal recessive distal spinal muscular atrophy 1 | 2 tests |
| Autosomal recessive nonsyndromic hearing loss 1A | 1 test |
| Autosomal recessive nonsyndromic hearing loss 1B | 1 test |
| Azorean disease | 1 test |
| Becker muscular dystrophy | 1 test |
| Beta thalassemia intermedia | 2 tests |
| Beta-thalassemia major | 2 tests |
| Biotinidase deficiency | 1 test |
| Chromosome 3, trisomy 3p | 1 test |
| Chromosome 5, trisomy 5p | 1 test |
| Complete trisomy 13 syndrome | 1 test |
| Complete trisomy 20 syndrome | 1 test |
| Complete trisomy 21 syndrome | 1 test |
| Congenital chromosomal disease | 2 tests |
| Congenital muscular dystrophy | 1 test |
| Congenital prothrombin deficiency | 1 test |
| Cystic fibrosis | 1 test |
| Deafness, digenic, GJB2/GJB6 | 1 test |
| Deficiency of alpha-mannosidase | 1 test |
| Dentatorubral-pallidoluysian atrophy | 1 test |
| Distal spinal muscular atrophy | 1 test |
| Duchenne / Becker Muscular Dystrophy | 1 test |
| Duchenne muscular dystrophy | 1 test |
| Dysmorphism-short stature-deafness-disorder of sex development syndrome | 1 test |
| Fabry disease | 1 test |
| Factor V deficiency | 1 test |
| Fragile X syndrome | 1 test |
| Fragile X-associated tremor/ataxia syndrome | 1 test |
| Friedreich ataxia | 1 test |
| Friedreich ataxia 1 | 1 test |
| Friedreich ataxia 2 | 1 test |
| Fucosidosis | 2 tests |
| GM1 gangliosidosis | 1 test |
| Galactosemia | 1 test |
| Galactosylceramide beta-galactosidase deficiency | 1 test |
| Gaucher disease | 1 test |
| Gilbert syndrome, susceptibility to | 1 test |
| Glycogen storage disease, type II | 1 test |
| Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | 1 test |
| Hb SS disease | 2 tests |
| Hemoglobinopathy | 2 tests |
| Hemophilia | 1 test |
| Hereditary pancreatitis | 1 test |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 1 test |
| Huntington disease | 1 test |
| Hurler syndrome | 1 test |
| Hyperhomocysteinemia | 2 tests |
| Infertility disorder | 1 test |
| Intellectual disability | 1 test |
| Intrauterine growth retardation with increased mitomycin c sensitivity | 1 test |
| Kennedy disease | 1 test |
| Klinefelter syndrome | 1 test |
| Leber optic atrophy | 1 test |
| Metachromatic leukodystrophy | 1 test |
| Mild hemophilia A | 1 test |
| Mitochondrial DNA-Associated Leigh Syndrome and NARP | 1 test |
| Morquio syndrome | 2 tests |
| Mucopolysaccharidosis | 1 test |
| Mucopolysaccharidosis type 1 | 2 tests |
| Mucopolysaccharidosis type 6 | 1 test |
| Mucopolysaccharidosis type 7 | 1 test |
| Mucopolysaccharidosis, MPS-I-H/S | 1 test |
| Mucopolysaccharidosis, MPS-I-S | 1 test |
| Mucopolysaccharidosis, MPS-II | 1 test |
| Mucopolysaccharidosis, MPS-IV-A | 1 test |
| Mucopolysaccharidosis, MPS-IV-B | 1 test |
| Neurodevelopmental disorder with alopecia and brain abnormalities | 1 test |
| Niemann-Pick disease, type A | 1 test |
| Niemann-Pick disease, type B | 1 test |
| Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive | 1 test |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 1 test |
| Phenylketonuria | 1 test |
| Pregnancy loss, recurrent, susceptibility to, 1 | 1 test |
| Qualitative or quantitative defects of dystrophin | 1 test |
| Sandhoff disease | 1 test |
| Sanfilippo syndrome | 1 test |
| Severe hemophilia A | 2 tests |
| Sex-linked hereditary disorder | 1 test |
| Sickle cell-Hemoglobin O Arab disease | 1 test |
| Sickle cell-beta-thalassemia | 2 tests |
| Sickle cell-hemoglobin C disease | 1 test |
| Sickle cell-hemoglobin D disease | 1 test |
| Spinocerebellar ataxia type 1 | 1 test |
| Steinert myotonic dystrophy syndrome | 1 test |
| Symptomatic form of hemophilia A in female carriers | 1 test |
| Tay-Sachs disease | 1 test |
| Thakker-Donnai syndrome | 1 test |
| Thalassemia | 2 tests |
| Thalassemia intermedia | 2 tests |
| Thalassemia minor | 2 tests |
| Triploidy and tetraploidy | 1 test |
| Trisomy 18 | 1 test |
| Trisomy 8 | 1 test |
| Turner syndrome | 1 test |
| alpha Thalassemia | 1 test |
| beta Thalassemia | 2 tests |
| trisomy 21, 18 and 13 | 1 test |