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Center for Comprehensive Genetic Services (Shahid Beheshti University of Medical Sciences)

General information

Center for Comprehensive Genetic Services
Shahid Beheshti University of Medical Sciences
Taleghani General Hospital, Araabi St., Yaman Ave.
Velenjak, Evin
Tehran
Tehran
Iran - 1985717413
http://ccgs.sbmu.ac.ir/
Organization ID: 505783

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 13

Gene

GeneSubmissionsLast Updated
AMPD21May 30, 2023
CLN51May 31, 2023
CLP12May 31, 2023
DMD1Mar 16, 2022
DOCK11Jul 6, 2023
FBXL31May 31, 2023
KDM5C1Sep 17, 2023
PLCE11Sep 30, 2023
SLC19A31Jun 1, 2023
TBC1D231Jun 1, 2023
TOE11Jun 9, 2023
TPK11Jun 1, 2023
TSEN541Jun 1, 2023

Testing in GTR

Disease nameNumber of tests
Autoimmune lymphoproliferative syndrome type 11 test
Autosomal hypohidrotic ectodermal dysplasia2 tests
Beta thalassemia intermedia1 test
Beta-thalassemia major1 test
Breast cancer, early-onset1 test
Breast cancer, familial male1 test
Breast-ovarian cancer, familial, susceptibility to, 11 test
Charcot-Marie-Tooth disease type 2B11 test
Chromosome 16 trisomy1 test
Chromosome 22q11.2 deletion syndrome, distal1 test
Chromosome 22q11.2 microduplication syndrome1 test
Complete trisomy 13 syndrome1 test
Congenital muscular dystrophy due to LMNA mutation1 test
Cystic fibrosis1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Dilated cardiomyopathy 1A1 test
Down syndrome1 test
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1 test
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive1 test
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 3, autosomal recessive1 test
Fanconi anemia1 test
Glucocorticoid deficiency with achalasia1 test
Hb SS disease1 test
Heart-hand syndrome, Slovenian type1 test
Hemoglobin Bart hydrops syndrome1 test
Hemoglobin H disease1 test
Hereditary breast ovarian cancer syndrome1 test
Hereditary thrombophilia1 test
Huntington disease1 test
Hutchinson-Gilford progeria syndrome, childhood-onset1 test
Lethal tight skin contracture syndrome1 test
Lissencephaly due to LIS1 mutation1 test
MTHFR THERMOLABILE POLYMORPHISM1 test
Mandibuloacral dysplasia with type A lipodystrophy1 test
Miller Dieker syndrome1 test
Prader-Willi syndrome1 test
Smith-Magenis syndrome1 test
Steinert myotonic dystrophy syndrome1 test
Succinate-semialdehyde dehydrogenase deficiency1 test
Thalassemia intermedia1 test
Thalassemia minor1 test
Thrombophilia due to activated protein C resistance1 test
Thrombophilia due to thrombin defect1 test
Thrombophilia, familial, due to decreased release of tissue plasminogen activator1 test
Trisomy 181 test
Turner syndrome1 test
Williams syndrome1 test
alpha Thalassemia1 test