ACMG Secondary Reporting

ACMG-Gene Examinations

Beside the scope of genetic diagnostics – in rare cases – genetic changes may be found by coincidence, which are not related to the requested analysis. If these variants turn out to be pathogenic or likely pathogenic and there are treatment options or preventive care measures available for you or your family (based on the currently valid guidelines of the American College of Medical Genetics and Genomics; ACMG SF v3.3; Lee et al., 2025, PMID: 40568962) these variants can be reported as a secondary finding.

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ACMG Gene Lists

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What We Offer With this Service

Cancer Phenotypes

Genes related to cancer phenotypes

Cardiovascular Phenotypes

Genes related to cardiovascular phenotypes

Metabolism Phenotypes

Genes related to inborn errors of metabolism phenotypes

Miscellaneous Phenotypes

Genes related to miscellaneous phenotypes

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Fast Turnaround Time

Less than 4 weeks after sample receipt

Safety

Highest confidentiality and quality standards

Reliability

Reliable support throughout all steps

Comprehensibility

Additional medical report

General Information

Secondary findings do not involve active investigation of the entire ACMG gene list, but rather are variants that are discovered incidentally as part of the diagnostic process. Reporting of secondary findings is only applicable if the patient consented and is free of charge.

An active investigation of the ACMG gene list is also offered, it can be selected as an additional option for most NGS-based germline investigations. In such cases, the “ACMG genes” (see below) are actively screened for pathogenic or likely pathogenic alterations, and an independent report will be issued, even if no pathogenic or likely pathogenic variants were found.

Notice:

According to German legislation, predictive diagnostics for diseases that do not occur until adulthood may not be performed in minors. For this reason, the analysis of the genes BRCA1, BRCA2, HFE, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, and TTR for minors is omitted.

If, the phenotypic spectrum of these genes is relevant to the clinical indication of the patient, these genes will not be excluded from the analysis.

Sample Report

Genes Related to Cancer Phenotypes

Gene	Phenotype	OMIM ID	Inheritance	Variants to Report
APC	Familial adenomatous polyposis	175100	AD	All P and LP
RET	Familial medullary thyroid cancer	155240	AD	All P and LP Also associated with multiple endocrine neoplasia type 2
BRCA1	Hereditary breast and/or ovarian cancer	604370	AD	All P and LP
BRCA2	Hereditary breast and/or ovarian cancer	612555	AD	All P and LP
PALB2	Hereditary breast and/or ovarian cancer	114480	AD	All P and LP
SDHD	Hereditary paraganglioma-pheochromocytomasyndrome	168000	AD	All P and LP
SDHAF2	Hereditary paraganglioma-pheochromocytomasyndrome	601650	AD	All P and LP
SDHC	Hereditary paraganglioma-pheochromocytomasyndrome	605373	AD	All P and LP
SDHB	Hereditary paraganglioma-pheochromocytomasyndrome	115310	AD	All P and LP
MAX	Hereditary paraganglioma-pheochromocytomasyndrome	171300	AD	All P and LP
TMEM127	Hereditary paraganglioma-pheochromocytomasyndrome	171300	AD	All P and LP
BMPR1A	Juvenile polyposis syndrome	174900	AD	All P and LP
SMAD4	Juvenile polyposis syndrome		AD	All P and LP Also associated with hereditary hemorrhagic telangiectasia
TP53	Li–Fraumeni syndrome	151623	AD	All P and LP
MLH1	Lynch syndrome (HNPCC)	609310	AD	All P and LP
MSH2	Lynch syndrome (HNPCC)	120435	AD	All P and LP
MSH6	Lynch syndrome (HNPCC)	614350	AD	All P and LP
PMS2	Lynch syndrome (HNPCC)	614337	AD	All P and LP
MEN1	Multiple endocrine neoplasia type 1	131100	AD	All P and LP
MUTYH	MUTYH-associated polyposis	608456	AR	P and LP (2 variants)
NF2	Neurofibromatosis type 2	101000	AD	All P and LP
STK11	Peutz-Jeghers syndrome	175200	AD	All P and LP
PTEN	PTEN hamartoma tumor syndrome	158350	AD	All P and LP
RB1	Retinoblastoma	158350	AD	All P and LP
TSC1	Tuberous sclerosis complex	180200	AD	All P and LP
TSC2	Tuberous sclerosis complex	613254	AD	All P and LP
VHL	von Hippel-Lindau syndrome	193300	AD	All P and LP
WT1	WT1-related Wilms tumor	194070	AD	All P and LP

AD = autosomal dominant; AR = autosomal recessive; LP = likely pathogenic; P = pathogenic

Genes Related to Cardiovascular Phenotypes

Gene	Phenotype	OMIM ID	Inheritance	Variants to Report
FBN1	Aortopathies	154700	AD	All P and LP
TGFBR1	Aortopathies	609192	AD	All P and LP Also associated with multiple endocrine neoplasia type 2
TGFBR2	Aortopathies	610168	AD	All P and LP
SMAD3	Aortopathies	613795	AD	All P and LP
ACTA2	Aortopathies	611788	AD	All P and LP
MYH11	Aortopathies	132900	AD	All P and LP
PKP2	Arrhythmogenic right ventricularcardiomyopathy (A subcategory of ACM)	609040	AD	All P and LP
DSP	Arrhythmogenic right ventricularcardiomyopathy (A subcategory of ACM)	607450	AD	All P and LP Also associated with dilated cardiomyopathy (DCM) as a primary disease
DSC2	Arrhythmogenic right ventricularcardiomyopathy (A subcategory of ACM)	610476	AD	All P and LP
TMEM43	Arrhythmogenic right ventricularcardiomyopathy (A subcategory of ACM)	604400	AD	All P and LP
DSG2	Arrhythmogenic right ventricularcardiomyopathy (A subcategory of ACM)	610193	AD	All P and LP
RYR2	Catecholaminergic polymorphic ventriculartachycardia	604772	AD	All P and LP
CASQ2	Catecholaminergic polymorphic ventriculartachycardia	611938	AR	P and LP (2 variants)
TRDN	Catecholaminergic polymorphic ventriculartachycardia	615441	AR	P and LP (2 variants) Also associated with long QT syndrome
TNNT2	Dilated cardiomyopathy	601494	AD	All P and LP Also associated with hypertrophic cardiomyopathy (HCM)
LMNA	Dilated cardiomyopathy	115200	AD	All P and LP Also associated with a skeletal myopathy (ie, myofibrillar myopathy)
FLNC	Dilated cardiomyopathy	617047	AD	All P and LP Also associated with a skeletal myopathy (ie, myofibrillar myopathy)
TTN	Dilated cardiomyopathy	604145	AD	All P and LP Only loss-of-function variants should be reported as a secondary finding
BAG3	Dilated cardiomyopathy	613881	AD	All P and LP Also associated with a skeletal myopathy (ie, myofibrillar myopathy)
DES	Dilated cardiomyopathy	604765	AR	All P and LP Also associated with a skeletal myopathy (ie, myofibrillar myopathy)
RBM20	Dilated cardiomyopathy	613172	AD	All P and LP
TNNC1	Dilated cardiomyopathy	611879	AD	All P and LP
PLN*	Dilated cardiomyopathy	609909	AD	All P and LP Also associated with hypertrophic cardiomyopathy (HCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC)
COL3A1	Ehlers-Danlos syndrome,vascular type	130050	AD	All P and LP
LDLR	Familial hypercholesterolemia	143890	SD	All P and LP
APOB	Familial hypercholesterolemia	144010	AD	All P and LP
PCSK9	Familial hypercholesterolemia	603776	AD	All P and LP
MYH7	Hypertrophic cardiomyopathy (Individuals with primary HCM may present in late stage disease with a DCM phenotype)	192600	AD	All P and LP Also associated with dilated cardiomyopathy (DCM) as a primary disease
MYBPC3	Hypertrophic cardiomyopathy (Individuals with primary HCM may present in late stage disease with a DCM phenotype)	115197	AD	All P and LP
TNNI3	Hypertrophic cardiomyopathy (Individuals with primary HCM may present in late stage disease with a DCM phenotype)	613690	AD	All P and LP
TPM1	Hypertrophic cardiomyopathy (Individuals with primary HCM may present in late stage disease with a DCM phenotype)	115196	AD	All P and LP
MYL3	Hypertrophic cardiomyopathy (Individuals with primary HCM may present in late stage disease with a DCM phenotype)	608751	AD	All P and LP
ACTC1	Hypertrophic cardiomyopathy (Individuals with primary HCM may present in late stage disease with a DCM phenotype)	612098	AD	All P and LP
PRKAG2	Hypertrophic cardiomyopathy (Individuals with primary HCM may present in late stage disease with a DCM phenotype)	600858	AD	All P and LP Pathogenic variants in this gene are associated with a metabolic storage disease that mimics HCM, but also can involve skeletal muscle.
MYL2	Hypertrophic cardiomyopathy (Individuals with primary HCM may present in late stage disease with a DCM phenotype)	608758	AD	All P and LP
KCNQ1	Long QT syndrome types 1 and 2	192500	AD	All P and LP
KCNH2	Long QT syndrome types 1 and 3	613688	AD	All P and LP
SCN5A	Long QT syndrome 3, Brugada syndrome	603830,601144	AD	All P and LP Also associated with dilated cardiomyopathy (DCM) as a primary disease.
CALM1	Long QT syndrome type 14	616247	AD	All P and LP
CALM2	Long QT syndrome type 15	616249	AD	All P and LP
CALM3	Long QT syndrome type 16	618782	AD	All P and LP

AD = autosomal dominant; AR = autosomal recessive; SD = semidominant; LP = likely pathogenic; P = pathogenic

*New Genes according to ACMG SF v3.3; Lee et al., 2025, PMID: 40568962

Genes Related to Inborn Errors of Metabolism Phenotypes

Gene	Phenotype	OMIM ID	Inheritance	Variants to Report
BTD	Biotinidase deficiency	253260	AR	P and LP (2 variants)
CYP27A1*	Cerebrotendinous xanthomatosis	213700	AR	P and LP (2 variants)
GLA	Fabry disease	301500	XL	All hemi-, het-, homozygous P and LP Gene also applies to the cardiovascular category
OTC	Ornithine transcarbamylase deficiency	311250	XL	All hemi-, het-, homozygous P and LP
GAA	Pompe disease	232300	AR	P and LP (2 variants)
ABCD1*	X-linked adrenoleukodystrophy	300100	XL	homozygous or 2 het. P and LP (2 variants)

AR = autosomal recessive; XL = X-linked; LP = likely pathogenic; P = pathogenic

*New Genes according to ACMG SF v3.3; Lee et al., 2025, PMID: 40568962

Genes Related to Miscellaneous Phenotypes

Gene	Phenotype	OMIM ID	Inheritance	Variants to Report
HFE	Hereditary hemochromatosis	235200	AR	p.C282Y homozygotes only Transcript for the HFE gene is NM_000410.3
ACVRL1	Hereditary hemorrhagic telangiectasia	600376	AD	All P and LP
ENG	Hereditary hemorrhagic telangiectasia	187300	AD	All P and LP
RYR1	Malignant hyperthermia	145600	AD	All P and LP
CACNA1S	Malignant hyperthermia	601887	AD	All P and LP
HNF1A	Maturity-onset of diabetes of the young	600496	AD	All P and LP
RPE65	RPE65-related retinopathy	204100,613794	AR	P and LP (2 variants)
ATP7B	Wilson disease	277900	AR	P and LP (2 variants)
TTR	Hereditary TTR amyloidosis	105210	AD	All P and LP

AD = autosomal dominant; AR = autosomal recessive; LP = likely pathogenic; P = pathogenic

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Sample Report ACMG

Sample Report

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