Arquivos Diagnostic - Exatus Gene

Neurological Diseases Panels

Exatus Gene offers numerous panels for neurological diseases, below is a list of the main ones offered:

Fragile X Syndrome (FMR1 expansion)
Rett syndrome (MECP2 gene sequencing)
Panel on Spastic Paraplegias and Amyotrophic Lateral Sclerosis
Rett Syndrome (MECP2 MLPA)
Leukodystrophies Panel
Neurofibromatosis Panel
Neuropathies Panel
Epilepsy Panel
Tuberous Sclerosis Panel
Dystonia Panel
Muscular Dystrophies, Myopathies and Myasthenia Panel
Ataxias Panel (NGS)
Autism Panel
Dementia and Parkinson’s Panel
Amyotrophic Lateral Sclerosis (C9orf72 expansion)
Broad DNA Panel (Neuromuscular Diseases)
Duchenne Muscular Dystrophy (MLPA from the DMD gene)
Huntington’s disease (HTT expansion)
Kennedy disease (AR expansion)
Charcot-Marie-Tooth Type 1A and HNPP (MLPA of PMP22)
Myotonic Dystrophy Type II (CNBP expansion)
Spinocerebellar ataxias by expansions (SCA1, SCA2, SCA3, SCA6)
Progressive Spinal Atrophy (MLPA of SMN1 and SMN2)
Progressive Spinal Atrophy (NGS sequencing of SMN1 after MLPA)
CADASIL (NOCH3 gene sequencing)
Spinocerebellar Ataxia Type 6 (CACNA1A/SCA6 expansion)
Spinocerebellar Ataxia Type 7 (ATXN7/SCA7 expansion)
Friedreich’s Ataxia (FXN expansion)
Spinocerebellar Ataxia Type 10 (ATXN10/SCA10 expansion)
Familial Amyloidosis (TTR gene sequencing)

Among others, consult our team and learn more about each panel.

Kidney Function Diseases Panels

Exatus Gene offers numerous panels for kidney function diseases, below is a list of the main ones offered:

Nephrotic Syndrome Panel
Polycystic Kidney Disease Panel
Hemolytic-Uremic Syndrome Panel
Renal Function Disorders Panel

Among others, consult our team and learn more about each panel.

Hematological Diseases Panels

Exatus Gene offers numerous panels for hematological diseases, below is a list of the main ones offered:

Hemochromatosis Panel
Velocardiofacial and DiGeorge Syndrome (22q11 region MLPA)
Panel of Immunodeficiencies (Main Genes)
Panel on Immunodeficiencies and Immune Diseases (Complete)
Thrombophilia Panel
Auto-Inflammatory Diseases Panel
Hemophilia Panel A and B
Fanconi Anemia Panel
Hereditary Anemias Panel
Coagulation Disorders Panel
Hemophilia A (CRP of Inv22 and Inv1)

Among others, consult our team and learn more about each panel.

Syndromes Panels

Exatus Gene offers numerous panels for syndromes, below is a list of the main ones offered:

Mitochondrial Disease Panel (Nuclear and Mitochondrial DNA)
Treatable Diseases Panel
Velocardiofacial and DiGeorge Syndrome (22q11 region MLPA)
Panel for Marfan Syndrome and Related Diseases
Rett syndrome (MECP2 gene sequencing)
Fragile X Syndrome (FMR1 expansion)
Neurofibromatosis Panel
Tuberous Sclerosis Panel
Autism Panel
WAGR syndrome (MLPA of region 11p13)
Williams syndrome (MLPA of region 7q11.23)
Wolf-Hirschhorn syndrome (MLPA of the 4p16 region)
Russell-Silver syndrome (11p15 methylation)
Smith-Magenis Syndrome (MLPA of the 17p11 region)
Sotos Syndrome (MLPA of the 5q35 region)
Phelan-McDermid Syndrome (MLPA of the 22q13 region)
Rubinstein-Taybi syndrome (MLPA of the 16p13 region)
Langer-Giedion syndrome (MLPA of region 8q24)
Marfan syndrome (FBN1 gene sequencing)
Miller-Dieker Syndrome (MLPA of the 17p13 region)
Angelman and Prader-Willi syndrome (methylation)
Beckwith-Wiedemann syndrome (11p15 methylation)
Cri du Chat Syndrome (MLPA of the 5p15 region)
1p36 Deletion Syndrome (MLPA of the 1p36 region)
Saethre-Chotzen Syndrome (MLPA from TWIST1 or region 7p21)
CHARGE syndrome (CHD7 gene sequencing)
Noonan Syndrome and Rasopathies Panel
Clinically Recognizable Syndromes Panel
Ehlers-Danlos and Cutis Laxa Panel
Craniosynostosis Panel
Skeletal Diseases Panel
Cystic Fibrosis (CFTR gene sequencing)

Among others, consult our team and learn more about each panel.

Gastric Disease Panels

Exatus Gene offers numerous gastric disease panels, below is a list of the main ones offered:

Alagille syndrome (MLPA from JAG1 or region 20p12)
Mitochondrial Disease Panel (Nuclear and Mitochondrial DNA)
Hemochromatosis Panel
Pancreatitis Panel
Chronic Cholestasis Panel
Hereditary Colorectal Cancer Panel

Among others, consult our team and learn more about each panel.

Endocrine Disease Panels

Exatus Gene offers numerous endocrine disease panels, below is a list of the main ones offered:

Male Infertility Panel
Panel of Endocrine Neoplasms
Panel of Neonatal Endocrinopathies
Pheochromocytoma and Paraganglioma Panel
Expanded Panel of Endocrine Neoplasms
Short Height Panel
Monogenic Diabetes Panel (MODY)
Congenital Adrenal Hyperplasia due to CYP21A2 Deficiency (Seq. + MLPA)

Among others, consult our team and learn more about each panel.

Skin Disease Panels

Exatus Gene offers numerous skin disease panels, below is a list of the main ones offered:

Expanded Panel on Melanoma and Skin Cancer
Epidermolysis Bullosa Panel
Ichthyosis and Ectodermal Dysplasia Panel

Among others, consult our team and learn more about each panel.

Heart Disease Panels

Exatus Gene offers numerous heart disease panels, below is a list of the main ones offered:

Dyslipidemia Panel
Cardiomyopathies Panel
Panel for Marfan Syndrome and Related Diseases
Aortic Aneurysm Panel
Arrhythmias Panel
Primary Ciliary Dyskinesia Panel

Among others, consult our team and learn more about each panel.

The G-band karyotype is a genetic test that identifies the presence of chromosomal alterations, such as Down, Edwards and Turner syndrome. This test is a photograph of all the chromosomes that make up the DNA of an individual, and can contribute to an accurate diagnosis and to the investigation of repeat abortions.

Currently, the karyotype is the exam indicated for the investigation of chromosomal disorders such as Down Syndrome, and also in the evaluation of translocations that may be present in habitual abortions.

Down syndrome (trisomy 21)
Edwards syndrome (trisomy 18)
Patau syndrome (trisomy 13)
Turner syndrome (X chromosome monosomy)
Klinefelter syndrome (X-chromosome aneuploidy)
Triple X Syndrome (Sex Chromosome Trisomy)
Jacob syndrome (Y sex chromosome aneuploidy)

Turnaround time: up to 30 days

Specimen: Blood

CentoGenome®

Whole genome sequencing (WGS) identifies almost all changes in a patient’s DNA by sequencing both the entire protein coding and the non-coding regions of the genome.

Today there are millions of patients suffering from misdiagnosed or undiagnosed genetic diseases as a result of insufficient genetic testing. Although in certain cases approaches like single gene testing, panel testing, or microarrays can identify the cause of a disease, these analyses are ultimately limited and can fail to reveal the full genetic cause. WGS, in contrast, overcomes such limitations and is the only test that can detect nearly all types of disease-causing genetic variants in one single test.

Most studies on genetic diseases have been heavily biased towards variants in gene coding regions, but this only accounts for approx. 1-2% of a patient’s entire genome. Recently, however, a growing body of studies have demonstrated that clinical WGS offers a more comprehensive analysis than WES and can provide molecular diagnosis where WES can not.

Non-coding variants, such as intergenic and intronic pathogenic variants, are growing in number and importance, spanning from sequence variants to more complex structural variations.

Turnaround time: up to 30 days

Specimen: Saliva, Blood and BloodSpot.