IFRD1

OMIMHGNC

Synonym(s): PC4, TIS7

Locus: 7q31.1

Protein: Interferon-related developmental regulator 1

 

Disorders

Tests

Test Type
Molecular (14)
Multi-Gene Panel (8)
Multi-Method Panel (4)
Test Method
Del/Dup (CNV) (2)
Mutation Scanning of Entire Coding Region (2)
Sequencing, Capillary (Sanger) (6)
Sequencing, Next Gen (9)
Prenatal/Carrier
Prenatal (1)
Carrier (2)
Lab Location
Spain(5)
Portugal(2)
Germany(5)
USA(1)
Poland(1)
 
TAT: 7-8 weeks
price: contact lab
NGS of 13 genes: AFG3L2, BEAN, CACNA1A, FGF14, IFRD1, ITPR1, KCNC3, PDYN, PLEKHG4, PRKCG, SPTBN2, TGM6, TTBK2.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 9-10 weeks
price: contact lab
NGS of 30 genes: ADCK3, AFG3L2, ANO10, APTX, BEAN, CACNA1A, CACNB4, FGF14, FXN, IFRD1, ITPR1, KCNA1, KCNC3, MTP, MTPAP, PDYN, PIK3R5, PLEKHG4, PRKCG, SACS, SETX, SLC1A3, SPTBN2, SYNE1, SYT14, TDP1, TGM6, TTBK2, TTPA, ZNF592
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
Neuromuscular Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Ataxia Related Disorders, Panel Massive Sequencing (NGS) 36 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Spinocerebellar ataxia 18 (SCA18, sequence analysis of IFRD1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Spinocerebellar ataxia 18 (SCA18, frequent mutations on IFRD1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Spinocerebellar Ataxia Type 18, Sequencing IFRD1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Ataxia
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 3-5 weeks
price: contact lab
Neuropathy, Motor and Sensory – Axonal
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Neuropathy, Motor and Sensory – Basic Diagnostics
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Neuropathy
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
IFRD1 - SCA18
method(s): ◦ Sequencing, Capillary (Sanger) 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-5 Weeks
price: contact lab
IFRD1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: ~2 weeks
price: contact lab
Spinocerebellar ataxia type 18, autosomal dominant
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany