Skip to content
  • Brazil
  • Canada
  • Europe
  • India
  • Italy
  • Japan
  • Korea
  • Latam
  • Spain
  • Taiwan
  • The Middle East
  • Turkey
  • United Kingdom
  • United States
  • País
  • Contacto

    Perú México Argentina Colombia Chile
    Información
  • Contacto

    Perú México Argentina Colombia Chile
    Información
  • Part of brands: |
IGENOMIX Latino AméricaIGENOMIX Latino América
  • Part of brands: |
  • Te guiamos
    • Antes del embarazo
    • Ciclo FIV
    • Embarazo sano
    • Recién nacido
  • Salud Reproductiva
    • Servicios Profesionales
    • Servicios Pacientes
  • Diagnóstico
  • Sobre Nosotros
    • Investigación Igenomix
    • Sobre Igenomix
    • Contacto
      • México
      • Perú
      • Colombia
      • Argentina
      • Chile
  • Blog
Genomics Precision Diagnostic > Neurology Precision Panel > Amyloidosis and Neuropathies Precision Panel

Amyloidosis and Neuropathies Precision Panel – 112 genes

Amyloidosis is the general term used to refer to the extracellular tissue deposition of fibrils composed of low molecular weight subunits of a variety of proteins – amyloid proteins. Many of these proteins are normal constituents of serum, but after undergoing conformational changes, their properties change, turning them into insoluble polymers. 
Overview
Indication
Clinical Utility
Genes & Diseases
Methodology
References

Overview

  • Amyloidosis is the general term used to refer to the extracellular tissue deposition of fibrils composed of low molecular weight subunits of a variety of proteins – amyloid proteins. Many of these proteins are normal constituents of serum, but after undergoing conformational changes, their properties change, turning them into insoluble polymers. These polymers accumulate in different systems leading to a plethora of symptoms involving many organs. There are several major forms of amyloidosis depending on the protein which originates the subunit, being AL (Immunoglobulin Light Chain) and AA (Serum Amyloid A Protein) the main types. The predominant mode of inheritance is autosomal dominant.  Neuropathy is a term that refers to a generalized and homogeneous process affecting many peripheral nerves, the distal nerves usually affected most prominently. It has a wide variety of causes, such as diabetes mellitus, alcohol abuse or Charcot-Marie-Tooth Disease. The most relevant manifestations are numbness or tingling in hands and feet, muscle weakness, pain hypersensitivity and loss of balance. The mode of inheritance varies from autosomal dominant to recessive.  

  • The Igenomix Amyloidosis and Neuropathies Precision Panel can serve as an accurate and directed diagnostic tool ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved. 

Indication

  • The Igenomix Amyloidosis and Neuropathies Precision Panel is indicated for those patients with a clinical diagnosis or suspicion presenting with or without the following manifestations: 
    • Renal Disease: hematuria (blood in urine) 
    • Cardiomyopathy: chest pain, arrythmia, heart failure 
    • Gastrointestinal Disease: hepatomegaly, bleeding, malabsorption. 
    • Neurologic Abnormalities: dementia, cortical bleeding. 
    • Musculoskeletal Disease: pseudohypertrophy, macroglossia. 
    • Hematologic Abnormalities: anemia, thrombocytopenia. 
    • Pulmonary Disease: dysphagia, Sjögren’s syndrome. 
    • Skin Manifestations: subcutaneous nodules, waxy thickening. 
    • Pain Hypersensitivity 

Clinical Utility

The clinical utility of this panel is: 

  • The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.  
  • Early initiation of multidisciplinary treatment in the form of pharmacologic treatment to help reduce the production of insoluble polymers, or even surgical procedures to transplant the affected organ. 
  • Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance. 
  • Improvement of delineation of genotype-phenotype correlation. 

Genes & Diseases

See all genes and diseases

GENE 

OMIM DISEASES 

INHERITANCE* 

% GENE COVERAGE (20X) 

HGMD** 

AARS1 

Charcot-Marie-
Tooth Disease,
Epileptic
Encephalopathy
 

AD,AR 

99.07 

30 of 30 

AGPAT2 

Berardinelli-Seip 
Congenital Lipodystrophy
 

AR 

100 

42 of 43 

AIFM1 

Combined Oxidative
Phosphorylation
Deficiency, Cowchock
 Syndrome, Deafness, 
Spondyloepimetaphyseal 
Dysplasia,
Leukoencephalopathy,
Charcot-Marie-Tooth
Disease
 

X,XR,G 

100 

– 

APOA1 

Amyloidosis, Apolipoprotein
A-I Deficiency
 

AD 

99.89 

68 of 70 

ASAH1 

Farber Lipogranulomatosis,
 Spinal Muscular Atrophy,
 Myoclonic Epilepsy
 

AR 

99.98 

69 of 70 

ATL1 

Neuropathy, Spastic 
Paraplegia
 

AD 

100 

93 of 93 

ATL3 

Neuropathy 

AD 

99.91 

5 of 5 

ATP1A1 

Charcot-Marie-Tooth
Disease,
Hypomagnesemia,
Seizures, Mental
Retardation
 

AD 

100 

16 of 16 

ATP7A 

Cutis Laxa, Menkes
 Disease, Spinal 
Muscular Atrophy,
Occipital Horn 
Syndrome
 

X,XR,G 

99.83 

– 

BAG3 

Cardiomyopathy,
 Myopathy
 

AD 

100 

83 of 85 

BICD2 

Spinal Muscular
 Atrophy
 

AD 

99.94 

39 of 39 

BSCL2 

Encephalopathy,
Lipodystrophy,
Neuronopathy,
Spastic Paraplegia,
Neurodegenerative
Syndrome
 

AD,AR 

99.83 

60 of 61 

CHCHD10 

Frontotemporal
Dementia,
Amyotrophic
Lateral Sclerosis,
Myopathy, Spinal
Muscular Atrophy
 

AD 

95.3 

22 of 30 

COX6A1 

Charcot-Marie-Tooth 
Disease
 

AR 

100 

1 of 1 

CYP27A1 

Cerebrotendinous 
Xanthomatosis
 

AR 

100 

118 of 118 

CYP7B1 

Bile Acid Synthesis
Defect, Spastic
Paraplegia
 

AR 

99.95 

70 of 70 

DCTN1 

Amyotrophic Lateral
Sclerosis, Neuronopathy,
Parkinsonism, Alveolar
Hypoventilation, Mental
Depression, Perry
Syndrome
 

AD,AR 

100 

56 of 56 

DHTKD1 

2-Aminoadipic
2-Oxoadipic
Aciduria,
Charcot-Marie-
Tooth Disease
 

AD,AR 

99.94 

25 of 25 

DNAJB2 

Spinal Muscular
 Atrophy
 

AR 

99.97 

4 of 5 

DNM2 

Charcot-Marie-Tooth
Disease, Lethal
Congenital
Contracture
Syndrome,
Myopathy
 

AD,AR 

99 

57 of 57 

DNMT1 

Cerebellar Ataxia, 
Deafness, Narcolepsy, 
Neuropathy, 
Autosomal Dominant 
Cerebellar Ataxia-
Deafness-Narcolepsy
 Syndrome
 

AD 

97.87 

30 of 30 

DRP2 

Charcot-Marie-Tooth
Disease, Neuronopathy,
Neuropathy
 

– 

99.98 

– 

DST 

Epidermolysis Bullosa
Simplex, Neuropathy
 

AR 

99.08 

19 of 19 

DYNC1H1 

Charcot-Marie-Tooth
Disease, Spinal
Muscular Atrophy,
Intellectual Disability
 

AD 

100 

104 of 104 

EGR2 

Charcot-Marie-Tooth
Disease, Hypertrophic
Neuropathy Of Dejerine-
Sottas
 

AD,AR 

100 

23 of 23 

ELP1 

Neuropathy, Familial 
Dysautonomia
 

AR 

100 

– 

EXOSC9 

Pontocerebellar
 Hypoplasia
 

AR 

99.86 

2 of 2 

FBLN5 

Cutis Laxa,
 Neuropathy
 

AD,AR 

97.43 

23 of 23 

FBXO38 

Neuronopathy 

AD 

99.87 

6 of 6 

FGD4 

Charcot-Marie-
Tooth Disease
 

AR 

99.95 

30 of 30 

FIG4 

Amyotrophic Lateral
Sclerosis, Charcot-Marie-
Tooth Disease,
Cleidocranial Dysplasia,
Micrognathia,
Polymicrogyria, Yunis-
Varon Syndrome
 

AD,AR 

99.92 

72 of 72 

GAN 

Giant Axonal Neuropathy 

AR 

100 

75 of 75 

GARS1 

Charcot-Marie-Tooth
Disease, Neuronopathy
 

AD 

100 

46 of 46 

GDAP1 

Charcot-Marie-Tooth
 Disease
 

AD,AR 

100 

106 of 106 

GJB1 

Charcot-Marie-Tooth 
Disease
 

X,XR,XD,G 

100 

– 

GLA 

Fabry Disease 

X,XR,G 

98 

– 

GNB4 

Charcot-Marie-Tooth
 Disease
 

AD 

100 

5 of 5 

GSN 

Amyloidosis 

AD 

96.69 

16 of 17 

HARS1 

Charcot-Marie-Tooth
Disease, Usher
Syndrome
 

AD,AR 

100 

– 

HEXA 

Tay-Sachs Disease 

AR 

100 

205 of 206 

HINT1 

Neuromyotonia,
Axonal Neuropathy
 

AR 

99.94 

19 of 19 

HK1 

Hemolytic Anemia,
Neurodevelopmental
Disorder, Visual Defects,
Brain Anomalies,
Neuropathy, Retinitis
Pigmentosa, Charcot-
Marie-Tooth Disease
 

AD,AR 

100 

14 of 17 

HMBS 

Porphyria 

AD 

100 

469 of 479 

HSPB1 

Charcot-Marie-Tooth
Disease, Neuronopathy
 

AD 

99.96 

45 of 46 

HSPB8 

Charcot-Marie-Tooth
Disease, Neuronopathy
 

AD 

97.59 

9 of 9 

IGHMBP2 

Charcot-Marie-Tooth
Disease, Spinal
Muscular Atrophy
 

AR 

99.94 

141 of 142 

INF2 

Charcot-Marie-Tooth
Disease, Glomerulosclerosis
 

AD 

99.91 

79 of 79 

JPH1 

Charcot-Marie-Tooth 
Disease
 

AD,AR 

99.59 

1 of 1 

KARS1 

Charcot-Marie-Tooth
Disease, Deafness
 

AR 

100 

34 of 34 

KIF1A 

Mental Retardation, 
Neuropathy, Spastic
 Paraplegia, Peho
 Syndrome
 

AD,AR 

100 

76 of 76 

KIF1B 

Charcot-Marie-Tooth
Disease, Neuroblastoma,
Pheochromocytoma,
Paraganglioma
 

AD 

99.89 

17 of 17 

KIF5A 

Amyotrophic Lateral
Sclerosis, Myoclonus,
Spastic Paraplegia
 

AD 

100 

85 of 85 

LITAF 

Charcot-Marie-Tooth
 Disease
 

AD 

90.74 

18 of 18 

LMNA 

Cardiomyopathy, Charcot-
Marie-Tooth Disease,
Emery-Dreifuss Muscular
 Dystrophy, Heart-Hand 
Syndrome, Hutchinson-
Gilford Progeria Syndrome, 
Lipodystrophy, Malouf 
Syndrome, Mandibuloacral
 Dysplasia, Restrictive 
Dermopathy, Werner 
Syndrome, 
Hypergonadotropic 
Hypogonadism
 

AD,AR 

100 

619 of 620 

LRSAM1 

Charcot-Marie-Tooth 
Disease
 

AD,AR 

100 

18 of 18 

MARS1 

Charcot-Marie-Tooth
Disease, Interstitial
Lung And Liver Disease,
Spastic Paraplegia
 

AD,AR 

99.98 

19 of 19 

MCM3AP 

Peripheral Neuropathy,
Impaired Intellectual
Development
 

AR 

99.96 

22 of 22 

MED25 

Basel-Vanagaite-Smirin-
Yosef Syndrome, Charcot-
Marie-Tooth Disease,
Intellectual Disability,
Cataract, Microcephaly
 

AR 

100 

5 of 5 

MFN2 

Charcot-Marie-Tooth
Disease, Hereditary
Motor And Sensory
Neuropathy,
Lipomatosis
 

AD,AR 

100 

233 of 233 

MME 

Charcot-Marie-Tooth
Disease,
Spinocerebellar Ataxia,
Membranous Nephropathy
 

AD,AR 

100 

33 of 33 

MORC2 

Charcot-Marie-Tooth
 Disease
 

AD 

100 

20 of 20 

MPV17 

Charcot-Marie-Tooth
Disease, Mitochondrial 
Dna Depletion Syndrome
 

AR 

100 

48 of 49 

MPZ 

Charcot-Marie-Tooth
Disease, Hypertrophic
Neuropathy Of Dejerine-
Sottas, Neuropathy, 
Roussy-Levy Hereditary
Areflexic Dystasia
 

AD,AR 

99.98 

245 of 245 

MTMR2 

Charcot-Marie-Tooth 
Disease
 

AR 

100 

34 of 34 

NAGLU 

Charcot-Marie-Tooth
Disease, Mucopolysaccharidosis
 

AD,AR 

93.23 

194 of 222 

NDRG1 

Charcot-Marie-Tooth
 Disease
 

AR 

100 

11 of 11 

NEFH 

Amyotrophic Lateral
Sclerosis, Charcot-
Marie-Tooth Disease
 

AD,AR 

97.5 

28 of 31 

NEFL 

Charcot-Marie-Tooth 
Disease
 

AD,AR 

– 

– 

NGF 

Neuropathy 

AR 

100 

5 of 5 

NTRK1 

Insensitivity To Pain, 
Neuropathy
 

AR 

100 

128 of 130 

PDK3 

Charcot-Marie-Tooth 
Disease
 

X,XD,G 

99.7 

– 

PLEKHG5 

Charcot-Marie-Tooth
Disease, Spinal
Muscular Atrophy
 

AR 

99.98 

14 of 14 

PMP2 

Charcot-Marie-Tooth 
Disease
 

AD 

99.74 

5 of 5 

PMP22 

Charcot-Marie-Tooth
Disease, Deafness,
Hypertrophic Neuropathy
Of Dejerine-Sottas,
Neuropathy, Roussy-
Levy Hereditary Areflexic
Dystasia, Demyelinating
Polyradiculoneuropathy
 

AD,AR 

97.82 

110 of 110 

PNKP 

Ataxia-Oculomotor
Apraxia, Charcot-Marie-
Tooth Disease, Epileptic
Encephalopathy
 

AR 

100 

36 of 36 

POLG 

Mitochondrial Dna 
Depletion Syndrome, 
External Ophthalmoplegia, 
Sensory Ataxic Neuropathy, 
Dysarthria, 
Ophthalmoparesis, 
Alpers-Huttenlocher 
Syndrome, 
Neurogastrointestinal 
Encephalomyopathy
 

AD,AR 

99.92 

325 of 326 

POLG2 

Mitochondrial Dna
 Depletion Syndrome, 
External Ophthalmoplegia
 

AD,AR 

99.97 

13 of 13 

PRDM12 

Neuropathy 

AR 

88.85 

9 of 10 

PRPS1 

Arts Syndrome, Charcot-
Marie-Tooth Disease,
Deafness, 
Phosphoribosylpyrophosphate
 Synthetase Superactivity,
Lethal Ataxia, Optic Atrophy,
Intellectual Disability,
Limb Spasticity, Retinal
Dystrophy
 

X,XR,G 

100 

– 

PRX 

Charcot-Marie-Tooth
Disease, Hypertrophic
Neuropathy Of Dejerine-
Sottas
 

AD,AR 

100 

59 of 59 

RAB7A 

Charcot-Marie-Tooth Disease 

AD 

100 

7 of 7 

REEP1 

Neuronopathy, Spastic
Paraplegia, Distal
Hereditary Motor
Neuropathy
 

AD 

100 

62 of 62 

RETREG1 

Neuropathy 

AR 

99.94 

– 

SBF1 

Charcot-Marie-Tooth
 Disease
 

AR 

99.94 

19 of 19 

SBF2 

Charcot-Marie-Tooth 
Disease
 

AR 

99.98 

44 of 44 

SCN11A 

Neuropathy, Paroxysmal
Extreme Pain Disorder,
Primary Erythromelalgia
 

AD 

99.8 

21 of 23 

SCN9A 

Erythermalgia, Epilepsy,
Indifference To Pain,
Neuropathy, Extreme
Pain Disorder, Dravet
Syndrome
 

AD,AR 

96.25 

126 of 137 

SCO2 

Cardioencephalomyopathy
, Myopia, Charcot-Marie-
Tooth Disease, Leigh
Syndrome
 

AD,AR 

100 

38 of 38 

SEPTIN9 

Neuralgic Amyotrophy 

AD 

86.94 

4 of 4 

SH3TC2 

Charcot-Marie-Tooth
Disease, Mononeuropathy
 Of The Median Nerve
 

AD,AR 

99.95 

114 of 114 

SIGMAR1 

Amyotrophic Lateral
Sclerosis, Spinal
Muscular Atrophy
 

AR 

100 

20 of 20 

SLC12A6 

Neuropathy, Corpus
 Callosum Agenesis
 

AR 

100 

21 of 21 

SLC25A46 

Neuropathy 

AR 

99.79 

16 of 17 

SLC52A2 

Brown-Vialetto-Van 
Laere Syndrome,
 Spinocerebellar Ataxia, 
Blindness, Deafness
 

AR 

100 

31 of 32 

SLC52A3 

Bulbar Palsy 

AR 

100 

43 of 43 

SLC5A7 

Myasthenic
 Syndrome,
 Neuronopathy
 

AD,AR 

99.92 

21 of 21 

SMN1 

Spinal Muscular Atrophy 

AR 

5.2 

17 of 91 

SPG11 

Amyotrophic Lateral
Sclerosis,
Charcot-Marie-Tooth
Disease, Spastic
Paraplegia
 

AR 

99.93 

289 of 297 

SPICE1 

Microcephaly 

– 

99.73 

– 

SPTLC1 

Neuropathy 

AD 

99.81 

12 of 12 

SPTLC2 

Neuropathy 

AD 

100 

18 of 18 

SURF1 

Charcot-Marie-Tooth
Disease, Leigh Syndrome,
Cardiomyopathy,
Leukodystrophy
 

AR,MI 

98.59 

117 of 124 

TFG 

Hereditary Motor And 
Sensory
Neuropathy, Spastic
Paraplegia
 

AD,AR 

99.67 

9 of 9 

TRIM2 

Charcot-Marie-Tooth 
Disease
 

AR 

97.87 

8 of 8 

TRPV4 

Avascular Necrosis Of 
Femoral Head, Brachyrachia,
Digital Arthropathy, 
Brachydactyly, Sensory 
Neuropathy, Parastremmatic 
Dwarfism, Spinal Muscular 
Atrophy, Spondyloepiphyseal 
Dysplasia, Brachyolmia
 

AD 

100 

88 of 88 

TTR 

Carpal Tunnel Syndrome, 
Amyloidosis
 

AD 

100 

195 of 196 

UBA1 

Spinal Muscular Atrophy 

X,XR,G 

99.58 

– 

VAPB 

Amyotrophic Lateral Sclerosis,
Spinal Muscular Atrophy
 

AD 

100 

9 of 9 

VCP 

Amyotrophic Lateral
Sclerosis, Charcot-Marie-
Tooth Disease, Inclusion Body
Myopathy, Frontotemporal
Dementia, Paget Disease
 Of Bone, Aphasia, Spastic
Paraplegia
 

AD 

100 

68 of 69 

VRK1 

Pontocerebellar Hypoplasia 

AR 

99.64 

15 of 15 

WNK1 

Neuropathy, 
Pseudohypoaldosteronism
 

AD,AR 

99.45 

44 of 50 

YARS1 

Charcot-Marie-Tooth Disease 

AD 

100 

15 of 15 

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial; G: Gonosomal Inheritance; D: Digenic Inheritance 

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

References

See scientific referrals

Kyle RA, Bayrd ED. Amyloidosis: review of 236 cases. Medicine. 1975 Jul;54(4):271-299. 

Shah KB, Inoue Y, Mehra MR. Amyloidosis and the Heart: A Comprehensive Review. Arch Intern Med. 2006;166(17):1805–1813. 

Milani, P., Merlini, G., & Palladini, G. (2018). Light Chain Amyloidosis. Mediterranean journal of hematology and infectious diseases, 10(1), e2018022. 

Said, G. Diabetic neuropathy—a review. Nat Rev Neurol 3, 331–340 (2007). 

Ziegler, D. (2008), Painful diabetic neuropathy: treatment and future aspects. Diabetes Metab. Res. Rev., 24: S52-S57. 

BROCHURE

Download

Request Information


TE GUIAMOS

Fertilidad
Prevención de enfermedades hereditarias
Embarazo sano

NUESTROS SERVICIOS

Para especialistas
Para pacientes

SOBRE NOSOTROS

Sobre Igenomix
Contacto
Prensa y Noticias
Trabaja con nosotros
Calidad

Blog: Camino a la fertilidad

Perú

+511 267 0094
consultas.peru@igenomix.com


México

+525 526 230 433
infomexico@igenomix.com


Argentina

(011) 2000-3107
infoargentina@igenomix.com


Chile

(56) 22 9932050
info.chile@igenomix.com


Colombia

57-323-3130937
consultas.colombia@igenomix.com

  • Brazil
  • Canada
  • Europe
  • India
  • Italy
  • Japan
  • Korea
  • Latam
  • Spain
  • Taiwan
  • The Middle East
  • Turkey
  • United Kingdom
  • United States
País

[2024] © Igenomix Política de privacidadPolítica de calidadNota legalPolítica de cookies

Solicitar información


  • Te guiamos
    • Antes del embarazo
    • Ciclo FIV
    • Embarazo sano
    • Recién nacido
  • Salud Reproductiva
    • Servicios Profesionales
    • Servicios Pacientes
  • Diagnóstico
  • Sobre Nosotros
    • Investigación Igenomix
    • Sobre Igenomix
    • Contacto
      • México
      • Perú
      • Colombia
      • Argentina
      • Chile
  • Blog
  • País
  • Usuarios registrados
  • Pacientes
Este sitio web almacena cookies en su ordenador. Estas cookies se utilizan para recopilar información acerca de la forma en que usted interactúa con nuestro sitio web y recordarlo. Usamos esta información para personalizar y mejorar su experiencia de navegación y para realizar análisis y recuento de los visitantes, tanto en este sitio web como a través de otros medios.AceptarRechazarPolítica de cookies