Tests

Genomic Research Center, Shahid Beheshti University of Medical Sciences

 
Test Type
Molecular (22)
Cytogenetic (10)
Multi-Gene Panel (5)
Multi-Method Panel (19)
Test Method
Chromosome Breakage (1)
Del/Dup (CNV) (2)
FISH-Interphase (6)
FISH-Metaphase (4)
Mutation Scanning of Select Exons (9)
Mutation Scanning of Entire Coding Region (9)
Sequencing, Capillary (Sanger) (16)
Sequencing, Next Gen (11)
Chromosome Analysis (8)
Prenatal/Carrier
Prenatal (1)
Carrier (4)
Test
TAT: 1-2 weeks
price: contact lab
1p36 Deletion Syndrome
disorder(s): 1p36 Deletion Syndrome 
method(s): ◦ Chromosome Analysis ◦ FISH-Interphase ◦ FISH-Metaphase 
TAT: 3-4 weeks
price: contact lab
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Test
disorder(s): 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
AAAS Gene Sequencing
disorder(s): Achalasia-Addisonianism-Alacrima Syndrome 
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
ACAT1-related 3-ketothiolase deficiency test
disorder(s): Ketothiolase Deficiency 
method(s): ◦ Sequencing, Capillary (Sanger) 
ACVR1 Sequencing
disorder(s): Fibrodysplasia Ossificans Progressiva 
method(s): ◦ Sequencing, Capillary (Sanger) 
ALDH5A1 Sequence Analysis
disorder(s): Succinic Semialdehyde Dehydrogenase Deficiency 
method(s): ◦ Sequencing, Capillary (Sanger) 
TAT: 1-2 weeks
price: contact lab
Blood chromosome analysis
disorder(s): FANCF-Related Fanconi Anemia 
method(s): ◦ Chromosome Breakage 
TAT: 1 week
price: contact lab
Bone Marrow for Karyotyping Leukemia
disorder(s): Acute Myeloid Leukemia Acute Lymphoblastic Leukemia, Somatic 
method(s): ◦ Chromosome Analysis ◦ FISH-Interphase 
TAT: 4-8 weeks
price: contact lab
Breast and Ovarian Cancer 21 Gene Panel
disorder(s): BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer 
method(s): ◦ Sequencing, Next Gen 
TAT: 2-3 weeks
price: contact lab
Chromosome Analysis with Karyotyping
disorder(s):
method(s): ◦ Chromosome Analysis 
Chromosome Analysis, Peripheral Blood,
disorder(s):
method(s): ◦ Chromosome Analysis 
TAT: 1-2 weeks
price: contact lab
Chromosome Analysis: Fetal Blood (Percutaneous Umbilical Blood Sampling/PUBS)
disorder(s):
method(s): ◦ Chromosome Analysis ◦ FISH-Interphase ◦ FISH-Metaphase 
TAT: 1-2 weeks
price: contact lab
Chromosome Analysis: Fetal Blood (Percutaneous Umbilical Blood Sampling/PUBS)
disorder(s):
method(s): ◦ Chromosome Analysis ◦ FISH-Interphase ◦ FISH-Metaphase 
TAT: 4-6 weeks
price: contact lab
Familial Breast Cancer: BRCA1 and BRCA2 genes
disorder(s): BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer 
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Mutation Scanning of Select Exons ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
FAS Gene Sequencing
disorder(s): FAS-Related Autoimmune Lymphoproliferative Syndrome 
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
FISH Whole chromosome painting
disorder(s): Acute Myeloid Leukemia 
method(s): ◦ FISH-Metaphase 
GJB2 Sequence Analysis
disorder(s): GJB2-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness 
method(s): ◦ Sequencing, Capillary (Sanger) 
Maternal Uniparental Disomy
disorder(s): Maternal Uniparental Disomy, Chromosome 14 
method(s): ◦ Chromosome Analysis ◦ FISH-Interphase 
TAT: 7-10 days
price: contact lab
Y Chromosome Detection Test
disorder(s):
method(s): ◦ Chromosome Analysis ◦ FISH-Interphase 
TAT: 2 weeks
price: contact lab
Y-Chromosome: Microdeletion Analysis
disorder(s): Y Chromosome Infertility 
method(s): ◦ Del/Dup (CNV) 
 
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