FLNA gene related symptoms and diseases
All the information presented here about the FLNA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to FLNA gene
Symptoms // Phenotype | % Cases |
---|---|
Hypertelorism | Common - Between 50% and 80% cases |
Skeletal dysplasia | Uncommon - Between 30% and 50% cases |
Cleft palate | Uncommon - Between 30% and 50% cases |
Intellectual disability | Uncommon - Between 30% and 50% cases |
Downslanted palpebral fissures | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with FLNA gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Scoliosis
- Hearing impairment
- Abnormality of the skeletal system
- Bowing of the long bones
- Prominent supraorbital ridges
- Failure to thrive
Rarely - Less than 30% cases
- Pectus excavatum
- Elbow dislocation
And 395 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FLNA gene
Here you will find a list of rare diseases related to the FLNA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FG SYNDROME 2; FGS2
Description
Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).
Most common symptoms of FG SYNDROME 2; FGS2
- Intellectual disability
- Seizures
- Generalized hypotonia
- Hypertelorism
- Failure to thrive
More info about FG SYNDROME 2; FGS2
SOURCES: OMIM
FRONTOMETAPHYSEAL DYSPLASIA
Alternate names
FRONTOMETAPHYSEAL DYSPLASIA Is also known as fmd
Description
Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.
Most common symptoms of FRONTOMETAPHYSEAL DYSPLASIA
- Intellectual disability
- Hearing impairment
- Scoliosis
- Hypertelorism
- Micrognathia
More info about FRONTOMETAPHYSEAL DYSPLASIA
CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1
Alternate names
CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1 Is also known as valvular heart disease, congenital, xmvd, myxomatous valvular dystrophy, x-linked
Description
X-linked cardiac valvular dysplasia is a rare X-linked form of heart disease characterized by mitral and/or aortic valve regurgitation. Only males have been diagnosed as affected, while carrier females are asymptomatic. The histologic features do not differ from the common severe and idiopathic mitral valve prolapse.
Most common symptoms of CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1
- Edema
- Congestive heart failure
- Abnormality of metabolism/homeostasis
- Mitral valve prolapse
- Mitral regurgitation
More info about CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1
INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED
Alternate names
INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED Is also known as intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement, ciipx, ipox, ciip, x-linked, congenital idiopathic intestinal pseudoobstruction, ciip
Description
Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion (Auricchio et al., 1996).Some primary forms of CIIP are caused by defects of enteric neuronal cells: see Hirschsprung disease (see, e.g., HSCR1; {142623}) and autosomal recessive visceral neuropathy (OMIM ) (Tanner et al., 1976).
Most common symptoms of INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED
- Seizures
- Hypertelorism
- Failure to thrive
- Abnormal facial shape
- Low-set ears
More info about INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED
NEURONAL INTESTINAL PSEUDOOBSTRUCTION
Description
Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.
Most common symptoms of NEURONAL INTESTINAL PSEUDOOBSTRUCTION
- Recurrent infections
- Patent ductus arteriosus
- Abnormal cardiac septum morphology
- Malabsorption
- Decreased antibody level in blood
More info about NEURONAL INTESTINAL PSEUDOOBSTRUCTION
SOURCES: ORPHANET
OTOPALATODIGITAL SYNDROME TYPE 1
Alternate names
OTOPALATODIGITAL SYNDROME TYPE 1 Is also known as opd syndrome 1, opd i syndrome, taybi syndrome
Description
Otopalatodigital syndrome type 1 (OPD1) is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.
Most common symptoms of OTOPALATODIGITAL SYNDROME TYPE 1
- Hearing impairment
- Hypertelorism
- Cleft palate
- Depressed nasal bridge
- Wide nasal bridge
More info about OTOPALATODIGITAL SYNDROME TYPE 1
SOURCES: ORPHANET
OTOPALATODIGITAL SYNDROME, TYPE I; OPD1
Alternate names
OTOPALATODIGITAL SYNDROME, TYPE I; OPD1 Is also known as opd syndrome 1, opd i syndrome
Description
Otopalatodigital syndrome-1 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include frontometaphyseal dysplasia (FMD1 ), otopalatodigital syndrome-2 (OPD2 ), and Melnick-Needles syndrome (MNS ), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD is characterized by a generalized skeletal dysplasia, deafness and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by Robertson, 2005). Verloes et al. (2000) suggested that these disorders constitute a single entity, which they termed 'frontootopalatodigital osteodysplasia.'
Most common symptoms of OTOPALATODIGITAL SYNDROME, TYPE I; OPD1
- Intellectual disability
- Short stature
- Hearing impairment
- Microcephaly
- Scoliosis
More info about OTOPALATODIGITAL SYNDROME, TYPE I; OPD1
OTOPALATODIGITAL SYNDROME TYPE 2
Alternate names
OTOPALATODIGITAL SYNDROME TYPE 2 Is also known as faciopalatoosseous syndrome, opd syndrome 2, opd ii syndrome, fpo, cranioorodigital syndrome
Description
Otopalatodigital syndrome type 2 (OPD2) is a severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.
Most common symptoms of OTOPALATODIGITAL SYNDROME TYPE 2
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
More info about OTOPALATODIGITAL SYNDROME TYPE 2
MELNICK-NEEDLES SYNDROME
Alternate names
MELNICK-NEEDLES SYNDROME Is also known as osteodysplasty of melnick and needles, melnick-needles osteodysplasty
Description
Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.
Most common symptoms of MELNICK-NEEDLES SYNDROME
- Short stature
- Hearing impairment
- Scoliosis
- Hypertelorism
- Failure to thrive
More info about MELNICK-NEEDLES SYNDROME
PERIVENTRICULAR NODULAR HETEROTOPIA
Alternate names
PERIVENTRICULAR NODULAR HETEROTOPIA Is also known as heterotopia, periventricular, ehlers-danlos variant, periventricular nodular heterotopia 4, formerly, heterotopia, familial nodular, heterotopia, periventricular, x-linked dominant, pvnh4, formerly, nhbp, nodular heterotopia, bilateral periventricular, bpnh
Description
Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.
Most common symptoms of PERIVENTRICULAR NODULAR HETEROTOPIA
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Hypertelorism
More info about PERIVENTRICULAR NODULAR HETEROTOPIA
EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE
Alternate names
EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE Is also known as eds, cardiac valvular type
Description
Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.
Most common symptoms of EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE
- Fatigue
- Atrial septal defect
- Dilatation
- Hernia
- Pectus excavatum
More info about EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE
TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME
Alternate names
TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME Is also known as odpf syndrome, odpd, osseous dysplasia, digital, with facial pigmentary defects and multiple frenula, todpd, terminal osseous dysplasia and pigmentary defects, odpf
Description
Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
Most common symptoms of TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME
- Hypertelorism
- Cleft palate
- Ptosis
- Low-set ears
- Flexion contracture
More info about TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME
EHLERS-DANLOS SYNDROME WITH PERIVENTRICULAR HETEROTOPIA
Alternate names
EHLERS-DANLOS SYNDROME WITH PERIVENTRICULAR HETEROTOPIA Is also known as eds with periventricular heterotopia
Description
Ehlers-Danlos syndrome (EDS) with periventricular heterotopia is a newly described variant of EDS.
Most common symptoms of EHLERS-DANLOS SYNDROME WITH PERIVENTRICULAR HETEROTOPIA
- Scoliosis
- Hernia
- Patent ductus arteriosus
- Gastroesophageal reflux
- Joint hypermobility
More info about EHLERS-DANLOS SYNDROME WITH PERIVENTRICULAR HETEROTOPIA
SOURCES: ORPHANET
CONGENITAL SHORT BOWEL SYNDROME
Description
Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.
Most common symptoms of CONGENITAL SHORT BOWEL SYNDROME
- Short stature
- Failure to thrive
- Cognitive impairment
- Vomiting
- Diarrhea
More info about CONGENITAL SHORT BOWEL SYNDROME
CONGENITAL VALVULAR DYSPLASIA
Description
Valvular dysplasia is a rare cardiac disease that may be limited to one of the four valves but can also involve the two atrioventricular valves and the two semilunar valves. When it is associated with either stenosis or regurgitation of the affected valve(s), the symptoms depend on the degree of obstruction or on the volume of regurgitation.
More info about CONGENITAL VALVULAR DYSPLASIA
SOURCES: ORPHANET
X-LINKED KELOID SCARRING-REDUCED JOINT MOBILITY-INCREASED OPTIC CUP-TO-DISC RATIO SYNDROME
Search interest in FLNA
Potential gene panels for FLNA gene
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By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Seq + Del/Dup Panel that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR
More info about this panelComprehensive Pulmonary-Vascular Seq + Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1
More info about this panelPeriventricular Heterotopia, X-Linked (sequence analysis of FLNA gene) Panel
By CGC Genetics
This panel specifically test the FLNA gene.
More info about this panelOtopalatodigital syndrome (deletion/duplication analysis on FLNA gene) Panel
By CGC Genetics
This panel specifically test the FLNA gene.
More info about this panelOtopalatodigital syndrome (sequence analysis of FLNA gene) Panel
By CGC Genetics
This panel specifically test the FLNA gene.
More info about this panelMental retardation, X-linked (NGS panel for 89 genes) Panel
By CGC Genetics Mental retardation, X-linked (NGS panel for 89 genes) that also includes the following genes: RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panelPeriventricular heterotopia (deletions/duplications analysis of FLNA gene) Panel
By CGC Genetics
This panel specifically test the FLNA gene.
More info about this panelPeriventricular nodular heterotopia (NGS panel of 8 genes) Panel
By CGC Genetics Periventricular nodular heterotopia (NGS panel of 8 genes) that also includes the following genes: DCHS1 ARFGEF2 ERMARD FAT4 FLNA FMR1 LRP2 NEDD4L
More info about this panelPeriventricular heterotopia (deletions/duplications analysis of FLNA gene) Panel
By CGC Genetics
This panel specifically test the FLNA gene.
More info about this panelPeriventricular nodular heterotopia (NGS panel of 8 genes) Panel
By CGC Genetics Periventricular nodular heterotopia (NGS panel of 8 genes) that also includes the following genes: DCHS1 ARFGEF2 ERMARD FAT4 FLNA FMR1 LRP2 NEDD4L
More info about this panelMarfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection that also includes the following genes: SKI SMS TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS
More info about this panelEhlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection that also includes the following genes: SPARC TGFBR1 TGFBR2 TNFRSF1A TNXB C1R C1S LZTS1 ADAMTSL2 B3GALT6
More info about this panelBleeding Disorders Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Bleeding Disorders Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 TBXA2R TBXAS1 VWF WAS ADAMTS13 ABCG5 ABCG8 GP6 HPS3
More info about this panelHypospadias Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hypospadias Sequencing Panel with CNV Detection that also includes the following genes: SALL1 BMP4 BMP7 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4
More info about this panelCongenital Limb Malformation Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Congenital Limb Malformation Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B SF3B4 FBXW4 SHH BRCA2 SOX9 TBX15
More info about this panelX-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics X-Linked Intellectual Disability Sequencing Panel with CNV Detection that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC35A2 SLC6A8 SLC7A3 SLC9A6 SMC1A KDM5C SMS
More info about this panelOtopalatodigital Spectrum Disorders, Periventricular Nodular Heterotopia and Cardiac Valvular Dystrophy via FLNA Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the FLNA gene.
More info about this panelThrombocytopenia Sequencing Panel with CNV Detection - Expanded Panel
By PreventionGenetics PreventionGenetics Thrombocytopenia Sequencing Panel with CNV Detection - Expanded that also includes the following genes: RUNX1 WAS ADAMTS13 ABCG5 ABCG8 TUBB1 ACTN1 CD36 MASTL CYCS
More info about this panelDisorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panelDisorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2
More info about this panelOpitz G/BBB Syndrome Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Opitz G/BBB Syndrome Sequencing Panel with CNV Detection that also includes the following genes: MED12 ZEB2 CASK SPECC1L EFNB1 FLNA MID1
More info about this panelEpilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
More info about this panelSkeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panelEhlers-Danlos syndrome NGS panel - Dominant & Recessive Panel
By Connective Tissue Gene Tests Ehlers-Danlos syndrome NGS panel - Dominant & Recessive that also includes the following genes: C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1
More info about this panelEhlers-Danlos syndrome Comprehensive panel - Dominant Panel
By Connective Tissue Gene Tests Ehlers-Danlos syndrome Comprehensive panel - Dominant that also includes the following genes: C1R C1S COL12A1 COL1A2 COL3A1 COL5A1 COL5A2 FLNA
More info about this panelEhlers-Danlos syndrome NGS panel - Dominant Panel
By Connective Tissue Gene Tests Ehlers-Danlos syndrome NGS panel - Dominant that also includes the following genes: C1R C1S COL12A1 COL1A2 COL3A1 COL5A1 COL5A2 FLNA
More info about this panelEhlers-Danlos syndrome Deletion / Duplication panel - Dominant Panel
By Connective Tissue Gene Tests Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant that also includes the following genes: C1R C1S COL12A1 COL1A2 COL3A1 COL5A1 COL5A2 FLNA
More info about this panelEhlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive Panel
By Connective Tissue Gene Tests Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive that also includes the following genes: C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1
More info about this panelEhlers-Danlos syndrome Comprehensive panel - Dominant & Recessive Panel
By Connective Tissue Gene Tests Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive that also includes the following genes: C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1
More info about this panelMarfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel Panel
By Connective Tissue Gene Tests Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS
More info about this panelMarfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS
More info about this panelMarfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel Panel
By Connective Tissue Gene Tests Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS
More info about this panelFrontometaphyseal dysplasia Comprehensive panel Panel
By Connective Tissue Gene Tests Frontometaphyseal dysplasia Comprehensive panel that also includes the following genes: TAB2 FLNA MAP3K7
More info about this panelFrontometaphyseal dysplasia NGS panel Panel
By Connective Tissue Gene Tests Frontometaphyseal dysplasia NGS panel that also includes the following genes: TAB2 FLNA MAP3K7
More info about this panelFrontometaphyseal dysplasia Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Frontometaphyseal dysplasia Deletion / Duplication panel that also includes the following genes: TAB2 FLNA MAP3K7
More info about this panelRickets, hypophosphatemic, X-linked dominant NGS Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNA gene.
More info about this panelMelnick-Needles syndrome Deletion / Duplication Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNA gene.
More info about this panelPeriventricular nodular heterotopia 1 Deletion / Duplication Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNA gene.
More info about this panelCardiac valvular dysplasia, X-linked Comprehensive Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNA gene.
More info about this panelFrontometaphyseal dysplasia Deletion / Duplication Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNA gene.
More info about this panelOtopalatodigital syndrome, type I / II NGS Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNA gene.
More info about this panelRickets, hypophosphatemic, X-linked dominant Comprehensive Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNA gene.
More info about this panelCardiac valvular dysplasia, X-linked Deletion / Duplication Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNA gene.
More info about this panelPeriventricular nodular heterotopia 1 Comprehensive Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNA gene.
More info about this panelOtopalatodigital syndrome, type I / II Deletion / Duplication Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNA gene.
More info about this panelPeriventricular nodular heterotopia 1 NGS Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNA gene.
More info about this panelTerminal osseous dysplasia Deletion / Duplication Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNA gene.
More info about this panelOtopalatodigital syndrome, type I / II Comprehensive Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNA gene.
More info about this panelFrontometaphyseal dysplasia Comprehensive Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNA gene.
More info about this panelFrontometaphyseal dysplasia NGS Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNA gene.
More info about this panelTerminal osseous dysplasia NGS Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNA gene.
More info about this panelMelnick-Needles syndrome Comprehensive Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNA gene.
More info about this panelMelnick-Needles syndrome NGS Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNA gene.
More info about this panelTerminal osseous dysplasia Comprehensive Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNA gene.
More info about this panelCardiac valvular dysplasia, X-linked NGS Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNA gene.
More info about this panelRickets, hypophosphatemic, X-linked dominant Deletion / Duplication Test Panel
By Connective Tissue Gene Tests
This panel specifically test the FLNA gene.
More info about this panelConnective tissue disorder Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Connective tissue disorder Deletion / Duplication panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2
More info about this panelConnective tissue disorder Comprehensive panel Panel
By Connective Tissue Gene Tests Connective tissue disorder Comprehensive panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2
More info about this panelConnective tissue disorder NGS panel Panel
By Connective Tissue Gene Tests Connective tissue disorder NGS panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2
More info about this panelMental retardation - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panelMarfan syndrome, EDS and other connective tissue disorders - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Marfan syndrome, EDS and other connective tissue disorders - different panels that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 CBS GATA5
More info about this panelVascular and connective tissue diseases - panels Panel
By MGZ Medical Genetics Center Vascular and connective tissue diseases - panels that also includes the following genes: AIMP1 BMPR1B BMPR2 SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB TREX1
More info about this panelMental Retardation and Dysmorphology - panels Panel
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelSyndromal Diseases - panels Panel
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelX-Linked Mental Retardation Panel
By MGZ Medical Genetics Center X-Linked Mental Retardation that also includes the following genes: RPL10 RPS6KA3 SLC12A6 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3
More info about this panelBrain Malformations / Neuronal Migration Disorders Panel
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panelThoracic Aortic Aneurysms and Aortic Dissections (TAAD) Panel
By MGZ Medical Genetics Center Thoracic Aortic Aneurysms and Aortic Dissections (TAAD) that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1 EFEMP2 FBN1
More info about this panelTeenager Stroke / Stroke-Like Episodes Panel
By MGZ Medical Genetics Center Teenager Stroke / Stroke-Like Episodes that also includes the following genes: TGFB2 TGFBR1 TGFBR2 TREX1 TTR SLC2A10 CACNA1C CBS ADA2 COL3A1
More info about this panelPeriventricular Nodular Heterotopia Panel
By MGZ Medical Genetics Center Periventricular Nodular Heterotopia that also includes the following genes: ARFGEF2 FLNA
More info about this panelFLNA-Related Disorders Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the FLNA gene.
More info about this panelFrontometaphyseal dysplasia Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the FLNA gene.
More info about this panelMelnick-Needles syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the FLNA gene.
More info about this panelMetaphyseal dysplasia panel Panel
By Centogene AG - the Rare Disease Company Metaphyseal dysplasia panel that also includes the following genes: RMRP RUNX2 ANKH CDKN1C FLNA MMP13 MMP9 NKX3-2
More info about this panelHeterotopia, periventricular, ED variant Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the FLNA gene.
More info about this panelHeterotopia, periventricular, X-linked dominant Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the FLNA gene.
More info about this panelCardiac valvular dysplesia, X-linked Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the FLNA gene.
More info about this panelAllNeuro panel Panel
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panelOtopaladigital syndrome type1 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the FLNA gene.
More info about this panelOtopaladigital syndrome type 2 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the FLNA gene.
More info about this panelTerminal osseous dysplasis Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the FLNA gene.
More info about this panelFLNA Panel
By Amplexa Genetics Amplexa Genetics A/S
This panel specifically test the FLNA gene.
More info about this panelEpileptic Encephalopathy Panel Panel
By CeGaT GmbH Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6 SPTAN1
More info about this panelNeuronal Migration Disorders Panel Panel
By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1
More info about this panelNeuronal Migration Disorders Panel Panel
By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1
More info about this panelCongenital Heart Defects Panel Panel
By CeGaT GmbH Congenital Heart Defects Panel that also includes the following genes: SEMA3E TBX1 TBX20 TBX3 TBX5 TFAP2B TLL1 ZIC3 ACTC1 CRELD1
More info about this panelSingle gene testing FLNA Panel
By CeGaT GmbH
This panel specifically test the FLNA gene.
More info about this panelPotentially lethal skeletal disorders Panel Panel
By CeGaT GmbH Potentially lethal skeletal disorders Panel that also includes the following genes: SLC26A2 SOX9 TRIP11 WNT7A NSDHL TRPV4 P3H1 CANT1 SLC35D1 COL11A1
More info about this panelEpilepsy Panel
By Asper Biogene Asper Biogene LLC Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC35A2 SLC35A3 SLC6A1 SLC6A8
More info about this panelBrain malformations Panel
By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB
More info about this panelEhlers-Danlos Syndrome Panel
By Asper Biogene Asper Biogene LLC Ehlers-Danlos Syndrome that also includes the following genes: TGFB2 TGFBR1 TGFBR2 TNXB C1R C1S B3GALT6 ATP6V0A2 FKBP14 RIN2
More info about this panelFLNA mutational analysis Panel
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the FLNA gene.
More info about this panelHAD panel 2 Panel
By Connective Tissue Laboratory Ghent University Hospital HAD panel 2 that also includes the following genes: ADAMTS10 SLC2A10 EFEMP2 ELN FBN2 FLNA MYLK NOTCH1 PRKG1
More info about this panelInherited Cardiovascular Diseases and Sudden Death Panel Panel
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panelAortic Valvular Diseases Panel Panel
By Health in Code Aortic Valvular Diseases Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ADAMTSL4 COL1A2
More info about this panelCardiomyopathies Panel Panel
By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1
More info about this panelCongenital Heart Diseases Panel Panel
By Health in Code Congenital Heart Diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TNNI3 TTN ACTA2 ACTC1 CRELD1
More info about this panelCardiovascular Diseases_General Panel Panel
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panelCongenital heart diseases Panel Panel
By Health in Code Congenital heart diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TFAP2B TNNI3 MED12 ZIC3 ACTA2
More info about this panelAortic diseases Panel Panel
By Health in Code Aortic diseases Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS GATA5
More info about this panelInvitae Aortopathy Comprehensive Panel Panel
By Invitae Invitae Aortopathy Comprehensive Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1
More info about this panelInvitae Ehlers-Danlos Syndrome Panel Panel
By Invitae Invitae Ehlers-Danlos Syndrome Panel that also includes the following genes: FKBP14 P3H1 SLC39A13 ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2 CRTAP CHST14
More info about this panelPeriventricular nodular heterotopia: FLNA gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the FLNA gene.
More info about this panelOtopalatodigital syndrome: FLNA gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the FLNA gene.
More info about this panelNGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA Panel
By Genome Diagnostics VU University Medical Center NGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 SCARF2 COL3A1 COL5A1
More info about this panelNGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FLNA Panel
By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FLNA that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL5A1
More info about this panelFLNA-Related Disorders: FLNA Gene Sequencing Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the FLNA gene.
More info about this panelFLNA-Related Disorders: FLNA Gene Deletion/Duplication Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the FLNA gene.
More info about this panelMarfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders: Sequencing Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1 COL5A1
More info about this panelEpilepsy and Seizure Disorders: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panelX-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panelBrain Malformations: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Brain Malformations: Sequencing Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 ACTB ACTG1 TMEM237 CASK TSEN34 ARFGEF2
More info about this panelDisproportionate Short Stature: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Sequencing Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TBX6 TRIP11
More info about this panelNeurology: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3
More info about this panelSkeletal Dysplasia: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2
More info about this panelComprehensive Cardiovascular: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Comprehensive Cardiovascular: Sequencing Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A BMPR2 SGCD SKI SLC22A5 BRAF
More info about this panelBrain Malformations: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Brain Malformations: Deletion/Duplication Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 ACTB ACTG1 TMEM237 CASK TSEN34 ARFGEF2
More info about this panelComprehensive Cardiovascular: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Comprehensive Cardiovascular: Deletion/Duplication Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A BMPR2 SGCD SKI BRAF SNTA1
More info about this panelDisproportionate Short Stature: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Deletion/Duplication Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TRIP11 TRPS1
More info about this panelEpilepsy and Seizure Disorders: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Deletion/Duplication Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panelMarfan Syndrome and Thoracic Aortic Aneurysm and Dissection NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection NGS Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1 COL5A1
More info about this panelPan-Cardio NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Pan-Cardio NGS Panel that also includes the following genes: MRPL3 RYR2 SCN1B SCN4B SCN5A SDHA SGCD SNTA1 TAZ TBX1
More info about this panelEpilepsy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panelXLID NGS Panel Panel
By Fulgent Genetics Fulgent Genetics XLID NGS Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panelSkeletal Dysplasias NGS panel Panel
By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1
More info about this panelFLNA Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FLNA gene.
More info about this panelComprehensive Epilepsy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panelX-chromosome High Resolution microarray analysis Panel
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panelThrombocytopenia Panel Panel
By Blueprint Genetics Thrombocytopenia Panel that also includes the following genes: RUNX1 SRC THBD WAS WIPF1 ADAMTS13 ABCG5 ABCG8 TUBB1 ACTN1
More info about this panelX-linked Intellectual Disability Panel Panel
By Blueprint Genetics X-linked Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5
More info about this panelBleeding Disorder/Coagulopathy Panel Panel
By Blueprint Genetics Bleeding Disorder/Coagulopathy Panel that also includes the following genes: RUNX1 SRC TBXA2R THBD VWF WAS ADAMTS13 ABCG5 ABCG8 HPS3
More info about this panelCongenital Structural Heart Disease Panel Panel
By Blueprint Genetics Congenital Structural Heart Disease Panel that also includes the following genes: BMPR2 SOS2 TBX1 TBX20 TBX5 TFAP2B TLL1 ZIC3 ACTA2 ACTB
More info about this panelComprehensive Hematology Panel Panel
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panelAorta Panel Panel
By Blueprint Genetics Aorta Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 ADAMTS10 SLC2A10 CBS
More info about this panelEhlers-Danlos Syndrome Panel Panel
By Blueprint Genetics Ehlers-Danlos Syndrome Panel that also includes the following genes: BGN TGFB2 TGFBR1 TGFBR2 CBS ATP6V0A2 FKBP14 SLC39A13 DSE ADAMTS2
More info about this panelComprehensive Metabolism Panel Panel
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panelEpileptic Encephalopathy Panel Panel
By Blueprint Genetics Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 ST3GAL3 ST3GAL5 SLC25A1 SLC2A1 SLC35A2
More info about this panelMetaphyseal Dysplasia Panel Panel
By Blueprint Genetics Metaphyseal Dysplasia Panel that also includes the following genes: RMRP RUNX2 ANKH CDKN1C SBDS COL10A1 FGFR3 FLNA MMP13 MMP9
More info about this panelComprehensive Epilepsy Panel Panel
By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
More info about this panelNeuronal Migration Disorder Panel Panel
By Blueprint Genetics Neuronal Migration Disorder Panel that also includes the following genes: MED12 TUBA8 TUBB2A TUBG1 VLDLR YWHAE ACTB NSDHL RXYLT1 RAB18
More info about this panelSkeletal Dysplasias Core Panel Panel
By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1
More info about this panelComprehensive Skeletal Dysplasias and Disorders Panel Panel
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panelComprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panelX-linked periventricular nodular heterotopia Panel
By Bioarray
This panel specifically test the FLNA gene.
More info about this panelOtopalatodigital syndrome, type II Panel
By Bioarray
This panel specifically test the FLNA gene.
More info about this panelFAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION: NGS PANEL Panel
By Laboratorio de Genetica Clinica SL FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION: NGS PANEL that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 ADAMTSL4 COL3A1 COL5A1 COL5A2
More info about this panelEHLERS-DANLOS SYNDROME WITH HETEROTOPIA PERIVENTRICULAR Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the FLNA gene.
More info about this panelPERIVENTRICULAR NODULAR HETEROTOPIA Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the FLNA gene.
More info about this panelPERIVENTRICULAR NODULAR HETEROTOPIA Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the FLNA gene.
More info about this panelFRONTOMETAPHYSEAL DYSPLASIA Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the FLNA gene.
More info about this panelOTOPALATODIGITAL SYNDROME Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the FLNA gene.
More info about this panelEHLERS-DANLOS SYNDROME: NGS PANEL-2 Panel
By Laboratorio de Genetica Clinica SL EHLERS-DANLOS SYNDROME: NGS PANEL-2 that also includes the following genes: TNXB B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2
More info about this panelMELNICK-NEEDLES SYNDROME Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the FLNA gene.
More info about this panelPeriventricular Nodular Heterotopia, Sequencing FLNA Gene Panel
By Reference Laboratory Genetics
This panel specifically test the FLNA gene.
More info about this panelOtopalatodigital Associated Syndromes, Sequencing FLNA Gene Panel
By Reference Laboratory Genetics
This panel specifically test the FLNA gene.
More info about this panelOtopalatodigital Associated Syndromes , Deletions-Duplications (MLPA) FLNA Gene Panel
By Reference Laboratory Genetics
This panel specifically test the FLNA gene.
More info about this panelOpitz-Kaveggia Syndrome , Panel Massive Sequencing (NGS) CASK, FLNA, MED12 Genes Panel
By Reference Laboratory Genetics Opitz-Kaveggia Syndrome , Panel Massive Sequencing (NGS) CASK, FLNA, MED12 Genes that also includes the following genes: MED12 CASK FLNA
More info about this panelMalformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes Panel
By Reference Laboratory Genetics Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes that also includes the following genes: TUBA8 VLDLR ACTB ACTG1 CASK ARFGEF2 NDE1 FKRP ARX ASPM
More info about this panelOtopalatodigital Spectrum Disorders: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the FLNA gene.
More info about this panelFLNA-Related Periventricular Nodular Heterotopia: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the FLNA gene.
More info about this panelFLNA-Related Periventricular Nodular Heterotopia: gene deletion/duplication Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the FLNA gene.
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